Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
2-179391825-G-A | c.100186C>T | p.Gln33396* | Nonsense | 312/312 | - | 2 |
2-179391828-TT-T | c.100185del | p.Lys33395Asnfs*9 | Frameshift | 312/312 | - | 3 |
2-179391848-A-G | c.100163T>C | p.Leu33388Pro | Missense | 312/312 | - | 1 |
2-179391875-A-T | c.100136T>A | p.Ile33379Asn | Missense | 312/312 | - | 1 |
2-179391878-T-G | c.100133A>C | p.His33378Pro | Missense | 312/312 | - | 1 |
2-179391926-CCATGTTACTTC-C | c.100076_100086del | p.Glu33359Valfs*18 | Frameshift | 312/312 | - | 1 |
2-179391962-C-T | c.100049G>A | p.Cys33350Tyr | Missense | 312/312 | - | 1 |
2-179391962-C-G | c.100049G>C | p.Cys33350Ser | Missense | 312/312 | - | 1 |
2-179391992-A-G | c.100019T>C | p.Ile33340Thr | Missense | 312/312 | - | 1 |
2-179392080-A-C | c.99977-46T>G | - | IntronicSNV | - | 311/311 | 1 |
2-179392080-A-T | c.99977-46T>A | - | IntronicSNV | - | 311/311 | 1 |
2-179392206-GA-G | c.99943del | p.Ser33315Glnfs*10 | Frameshift | 311/312 | - | 1 |
2-179392277-A-G | c.99872T>C | p.Met33291Thr | Missense | 311/312 | - | 2 |
2-179393344-T-G | c.99430A>C | p.Asn33144His | Missense | 309/312 | - | 1 |
2-179393500-G-A | c.99274C>T | p.Gln33092* | Nonsense | 309/312 | - | 1 |
2-179393803-C-G | c.98971G>C | p.Glu32991Gln | Missense | 309/312 | - | 1 |
2-179393859-A-G | c.98915T>C | p.Ile32972Thr | Missense | 309/312 | - | 1 |
2-179394707-C-T | c.98807G>A | p.Ser32936Asn | Missense | 308/312 | - | 1 |
2-179394801-C-T | c.98713G>A | p.Gly32905Arg | Missense | 308/312 | - | 1 |
2-179395035-AA-A | c.98604del | p.Ala32869Leufs*41 | Frameshift | 307/312 | - | 1 |
2-179395182-G-C | c.98456C>G | p.Ser32819* | Nonsense | 307/312 | - | 1 |
2-179395221-A-T | c.98417T>A | p.Phe32806Tyr | Missense | 307/312 | - | 1 |
2-179395717-T-G | c.97921A>C | p.Lys32641Gln | Missense | 307/312 | - | 1 |
2-179395813-C-T | c.97825G>A | p.Val32609Met | Missense | 307/312 | - | 2 |
2-179395958-T-C | c.97680A>G | p.Ala32560Ala | Synonymous | 307/312 | - | 1 |
2-179396252-G-T | c.97386C>A | p.Asp32462Glu | Missense | 307/312 | - | 1 |
2-179396252-G-A | c.97386C>T | p.Asp32462Asp | Synonymous | 307/312 | - | 1 |
2-179396259-G-A | c.97379C>T | p.Thr32460Met | Missense | 307/312 | - | 1 |
2-179396306-G-T | c.97332C>A | p.Tyr32444* | Nonsense | 307/312 | - | 1 |
2-179396314-C-T | c.97324G>A | p.Gly32442Arg | Missense | 307/312 | - | 1 |
2-179396329-G-A | c.97309C>T | p.His32437Tyr | Missense | 307/312 | - | 1 |
2-179396475-C-T | c.97163G>A | p.Gly32388Asp | Missense | 307/312 | - | 1 |
2-179396539-G-A | c.97099C>T | p.Pro32367Ser | Missense | 307/312 | - | 1 |
2-179396568-T-G | c.97070A>C | p.Glu32357Ala | Missense | 307/312 | - | 1 |
2-179397318-C-T | c.96320G>A | p.Arg32107Lys | Missense | 307/312 | - | 1 |
2-179397418-GGAG-G | c.96220_96222del | p.Pro32074del | InFrameDeletion | 307/312 | - | 1 |
2-179397561-C-T | c.96077G>A | p.Arg32026His | Missense | 307/312 | - | 2 |
2-179398050-G-C | c.95588C>G | p.Thr31863Arg | Missense | 307/312 | - | 1 |
2-179398050-G-A | c.95588C>T | p.Thr31863Met | Missense | 307/312 | - | 1 |
2-179398110-A-T | c.95528T>A | p.Ile31843Asn | Missense | 307/312 | - | 1 |
2-179398195-C-G | c.95443G>C | p.Glu31815Gln | Missense | 307/312 | - | 3 |
2-179398266-C-T | c.95372G>A | p.Ser31791Asn | Missense | 307/312 | - | 2 |
2-179398266-C-A | c.95372G>T | p.Ser31791Ile | Missense | 307/312 | - | 1 |
2-179398284-GTGTAGGGTT-G | c.95346_95354del | p.Thr31783_His31785del | InFrameDeletion | 307/312 | - | 1 |
2-179398443-G-A | c.95195C>T | p.Pro31732Leu | Missense | 307/312 | - | 1 |
2-179398515-C-T | c.95123G>A | p.Arg31708Gln | Missense | 307/312 | - | 1 |
2-179398628-ACG-TGA | c.95008_95010delinsTCA | p.Arg31670Ser | Nonsense | 307/312 | - | 1 |
2-179398747-T-C | c.94891A>G | p.Ile31631Val | Missense | 307/312 | - | 1 |
2-179398891-C-G | c.94747G>C | p.Gly31583Arg | Missense | 307/312 | - | 1 |
2-179399071-G-A | c.94567C>T | p.Arg31523Trp | Missense | 307/312 | - | 4 |
2-179399221-C-T | c.94417G>A | p.Glu31473Lys | Missense | 307/312 | - | 1 |
2-179399601-CT-AG | c.94036_94037inv | p.Arg31346Leu | Missense | 307/312 | - | 1 |
2-179399623-T-C | c.94015A>G | p.Ser31339Gly | Missense | 307/312 | - | 2 |
2-179399677-C-T | c.93961G>A | p.Val31321Ile | Missense | 307/312 | - | 2 |
2-179399809-A-G | c.93829T>C | p.Tyr31277His | Missense | 307/312 | - | 1 |
2-179399813-C-G | c.93825G>C | p.Lys31275Asn | Missense | 307/312 | - | 1 |
2-179399813-C-T | c.93825G>A | p.Lys31275Lys | Synonymous | 307/312 | - | 1 |
2-179400115-G-A | c.93523C>T | p.Arg31175* | Nonsense | 307/312 | - | 1 |
2-179400230-AA-A | c.93409del | p.Ser31137Leufs*4 | Frameshift | 307/312 | - | 1 |
2-179400235-G-T | c.93403C>A | p.Arg31135Arg | Synonymous | 307/312 | - | 1 |
2-179400235-G-A | c.93403C>T | p.Arg31135* | Nonsense | 307/312 | - | 1 |
2-179400790-C-T | c.92980G>A | p.Asp30994Asn | Missense | 306/312 | - | 1 |
2-179400959-T-TT | c.92813dup | p.Asn30938Lysfs*39 | Frameshift | 306/312 | - | 1 |
2-179401033-T-C | c.92737A>G | p.Ile30913Val | Missense | 306/312 | - | 1 |
2-179401230-G-A | c.92540C>T | p.Pro30847Leu | Missense | 306/312 | - | 2 |
2-179401931-G-GG | c.92201dup | p.Leu30735Serfs*16 | Frameshift | 305/312 | - | 1 |
2-179401965-G-A | c.92167C>T | p.Pro30723Ser | Missense | 305/312 | - | 1 |
2-179402066-T-A | c.92161+3A>T | - | IntronicSNV | - | 304/311 | 1 |
2-179402164-T-G | c.92066A>C | p.Lys30689Thr | Missense | 304/312 | - | 1 |
2-179402171-C-T | c.92059G>A | p.Val30687Ile | Missense | 304/312 | - | 1 |
2-179403750-C-T | c.91208G>A | p.Arg30403His | Missense | 302/312 | - | 1 |
2-179403750-C-G | c.91208G>C | p.Arg30403Pro | Missense | 302/312 | - | 1 |
2-179403853-T-C | c.91105A>G | p.Lys30369Glu | Missense | 302/312 | - | 1 |
2-179403855-C-T | c.91103G>A | p.Arg30368His | Missense | 302/312 | - | 1 |
2-179403885-C-T | c.91073G>A | p.Gly30358Asp | Missense | 302/312 | - | 1 |
2-179404532-A-C | c.90556T>G | p.Ser30186Ala | Missense | 301/312 | - | 1 |
2-179404550-G-A | c.90538C>T | p.Arg30180Cys | Missense | 301/312 | - | 1 |
2-179404688-GG-G | c.90401del | p.Pro30134Leufs*15 | Frameshift | 301/312 | - | 1 |
2-179404802-T-G | c.90387A>C | p.Glu30129Asp | Missense | 300/312 | - | 1 |
2-179405071-T-C | c.90118A>G | p.Arg30040Gly | Missense | 300/312 | - | 1 |
2-179405807-A-G | c.90091+202T>C | - | IntronicSNV | - | 299/311 | 1 |
2-179405807-A-T | c.90091+202T>A | - | IntronicSNV | - | 299/311 | 1 |
2-179406191-C-T | c.89909G>A | p.Arg29970His | Missense | 299/312 | - | 1 |
2-179406305-G-T | c.89795C>A | p.Pro29932His | Missense | 299/312 | - | 1 |
2-179406993-A-G | c.89786T>C | p.Ile29929Thr | Missense | 298/312 | - | 1 |
2-179407042-C-T | c.89737G>A | p.Gly29913Arg | Missense | 298/312 | - | 1 |
2-179407285-G-T | c.89494C>A | p.Pro29832Thr | Missense | 298/312 | - | 1 |
2-179407472-G-T | c.89405C>A | p.Thr29802Asn | Missense | 297/312 | - | 1 |
2-179407529-T-A | c.89348A>T | p.Glu29783Val | Missense | 297/312 | - | 1 |
2-179407574-G-A | c.89303C>T | p.Pro29768Leu | Missense | 297/312 | - | 1 |
2-179407641-T-C | c.89236A>G | p.Lys29746Glu | Missense | 297/312 | - | 1 |
2-179407837-G-C | c.89159C>G | p.Pro29720Arg | Missense | 296/312 | - | 1 |
2-179408012-C-T | c.88984G>A | p.Gly29662Ser | Missense | 296/312 | - | 1 |
2-179408116-T-G | c.88880A>C | p.Asp29627Ala | Missense | 296/312 | - | 1 |
2-179408585-C-T | c.88582G>A | p.Ala29528Thr | Missense | 295/312 | - | 1 |
2-179408713-A-G | c.88454T>C | p.Ile29485Thr | Missense | 295/312 | - | 1 |
2-179408836-G-A | c.88331C>T | p.Pro29444Leu | Missense | 295/312 | - | 1 |
2-179409010-G-A | c.88242C>T | p.Ser29414Ser | Synonymous | 294/312 | - | 1 |
2-179410226-T-C | c.87907A>G | p.Thr29303Ala | Missense | 293/312 | - | 1 |
2-179410252-A-G | c.87881T>C | p.Val29294Ala | Missense | 293/312 | - | 1 |
2-179410261-T-G | c.87872A>C | p.Lys29291Thr | Missense | 293/312 | - | 1 |
2-179410276-C-G | c.87857G>C | p.Trp29286Ser | Missense | 293/312 | - | 1 |
2-179410376-TT-T | c.87759del | p.Glu29254Serfs*22 | Frameshift | 293/312 | - | 1 |
2-179410666-G-T | c.87593C>A | p.Ser29198Tyr | Missense | 292/312 | - | 1 |
2-179410666-G-A | c.87593C>T | p.Ser29198Phe | Missense | 292/312 | - | 1 |
2-179410776-C-G | c.87483G>C | p.Trp29161Cys | Missense | 292/312 | - | 1 |
2-179410837-G-T | c.87422C>A | p.Pro29141His | Missense | 292/312 | - | 1 |
2-179410837-G-C | c.87422C>G | p.Pro29141Arg | Missense | 292/312 | - | 1 |
2-179410975-C-T | c.87379G>A | p.Gly29127Arg | Missense | 291/312 | - | 1 |
2-179411665-A-G | c.86819-33T>C | - | IntronicSNV | - | 289/311 | 5 |
2-179412550-T-G | c.86099A>C | p.Lys28700Thr | Missense | 288/312 | - | 1 |
2-179412570-T-TT | c.86079dup | p.Val28694Serfs*21 | Frameshift | 288/312 | - | 1 |
2-179412628-C-T | c.86021G>A | p.Arg28674His | Missense | 288/312 | - | 1 |
2-179412783-A-T | c.85866T>A | p.Asn28622Lys | Missense | 288/312 | - | 1 |
2-179413099-G-A | c.85550C>T | p.Pro28517Leu | Missense | 288/312 | - | 2 |
2-179413540-C-G | c.85109G>C | p.Arg28370Thr | Missense | 288/312 | - | 1 |
2-179413541-T-TT | c.85108dup | p.Arg28370Lysfs*15 | Frameshift | 288/312 | - | 1 |
2-179413568-C-T | c.85081G>A | p.Ala28361Thr | Missense | 288/312 | - | 1 |
2-179413874-C-CA | c.84774_84775insT | p.Val28259Cysfs*22 | Frameshift | 288/312 | - | 1 |
2-179414177-G-A | c.84472C>T | p.Pro28158Ser | Missense | 288/312 | - | 1 |
2-179414318-C-T | c.84427G>A | p.Val28143Met | Missense | 287/312 | - | 1 |
2-179414318-C-G | c.84427G>C | p.Val28143Leu | Missense | 287/312 | - | 1 |
2-179414539-A-G | c.84206T>C | p.Met28069Thr | Missense | 287/312 | - | 1 |
2-179416868-CTCC-C | c.83060_83062del | p.Gly27687del | InFrameDeletion | 284/312 | - | 1 |
2-179416951-A-G | c.82972T>C | p.Ser27658Pro | Missense | 284/312 | - | 1 |
2-179417899-A-G | c.82024T>C | p.Tyr27342His | Missense | 284/312 | - | 1 |
2-179418382-C-A | c.81646G>T | p.Val27216Phe | Missense | 283/312 | - | 1 |
2-179418418-C-T | c.81610G>A | p.Glu27204Lys | Missense | 283/312 | - | 1 |
2-179418743-T-A | c.81391A>T | p.Thr27131Ser | Missense | 282/312 | - | 1 |
2-179418854-C-T | c.81280G>A | p.Gly27094Ser | Missense | 282/312 | - | 1 |
2-179418865-A-G | c.81269T>C | p.Ile27090Thr | Missense | 282/312 | - | 1 |
2-179419306-C-G | c.81064G>C | p.Glu27022Gln | Missense | 281/312 | - | 1 |
2-179419332-C-T | c.81038G>A | p.Trp27013* | Nonsense | 281/312 | - | 1 |
2-179419353-C-T | c.81017G>A | p.Arg27006His | Missense | 281/312 | - | 1 |
2-179419366-T-C | c.81004A>G | p.Ile27002Val | Missense | 281/312 | - | 1 |
2-179419690-A-C | c.80792T>G | p.Leu26931Arg | Missense | 280/312 | - | 1 |
2-179419875-ACC-TGA | c.80605_80607delinsTCA | p.Gly26869Ser | Nonsense | 280/312 | - | 1 |
2-179421691-GA-G | c.80486del | p.Ile26829Thrfs*4 | Frameshift | 279/312 | - | 1 |
2-179421694-A-G | c.80483T>C | p.Ile26828Thr | Missense | 279/312 | - | 3 |
2-179421758-G-A | c.80419C>T | p.Arg26807Cys | Missense | 279/312 | - | 1 |
2-179422082-T-C | c.80203A>G | p.Ser26735Gly | Missense | 278/312 | - | 1 |
2-179422481-C-G | c.79896G>C | p.Met26632Ile | Missense | 277/312 | - | 1 |
2-179422481-C-T | c.79896G>A | p.Met26632Ile | Missense | 277/312 | - | 1 |
2-179422669-G-T | c.79708C>A | p.Pro26570Thr | Missense | 277/312 | - | 1 |
2-179424583-T-A | c.78572A>T | p.Glu26191Val | Missense | 275/312 | - | 1 |
2-179424716-G-A | c.78439C>T | p.Leu26147Leu | Synonymous | 275/312 | - | 1 |
2-179424755-T-C | c.78400A>G | p.Ile26134Val | Missense | 275/312 | - | 1 |
2-179424835-G-A | c.78320C>T | p.Pro26107Leu | Missense | 275/312 | - | 1 |
2-179424862-G-A | c.78293C>T | p.Thr26098Ile | Missense | 275/312 | - | 1 |
2-179425063-C-T | c.78092G>A | p.Arg26031His | Missense | 275/312 | - | 1 |
2-179425063-C-G | c.78092G>C | p.Arg26031Pro | Missense | 275/312 | - | 1 |
2-179425208-G-T | c.77947C>A | p.Pro25983Thr | Missense | 275/312 | - | 1 |
2-179425439-G-A | c.77716C>T | p.Arg25906Cys | Missense | 275/312 | - | 2 |
2-179425453-G-C | c.77702C>G | p.Ser25901Cys | Missense | 275/312 | - | 1 |
2-179425576-T-G | c.77579A>C | p.Tyr25860Ser | Missense | 275/312 | - | 1 |
2-179425919-C-T | c.77236G>A | p.Val25746Ile | Missense | 275/312 | - | 1 |
2-179426079-T-G | c.77076A>C | p.Glu25692Asp | Missense | 275/312 | - | 1 |
2-179426305-C-T | c.76850G>A | p.Arg25617Gln | Missense | 275/312 | - | 1 |
2-179426506-C-T | c.76649G>A | p.Arg25550His | Missense | 275/312 | - | 1 |
2-179426506-C-A | c.76649G>T | p.Arg25550Leu | Missense | 275/312 | - | 1 |
2-179426596-C-T | c.76559G>A | p.Ser25520Asn | Missense | 275/312 | - | 1 |
2-179426759-TCATA-T | c.76393_76396del | p.Tyr25465Asnfs*11 | Frameshift | 275/312 | - | 1 |
2-179426782-TG-T | c.76373del | p.Ser25458* | Frameshift | 275/312 | - | 1 |
2-179427043-A-AA | c.76113dup | p.Asn25372* | Nonsense | 275/312 | - | 1 |
2-179427119-T-C | c.76036A>G | p.Thr25346Ala | Missense | 275/312 | - | 1 |
2-179427186-A-G | c.75969T>C | p.Gly25323Gly | Synonymous | 275/312 | - | 1 |
2-179427536-T-C | c.75619A>G | p.Ile25207Val | Missense | 275/312 | - | 5 |
2-179428172-G-A | c.74983C>T | p.Arg24995Cys | Missense | 275/312 | - | 1 |
2-179428172-G-T | c.74983C>A | p.Arg24995Ser | Missense | 275/312 | - | 1 |
2-179428313-A-T | c.74842T>A | p.Trp24948Arg | Missense | 275/312 | - | 1 |
2-179428314-T-A | c.74841A>T | p.Arg24947Ser | Missense | 275/312 | - | 1 |
2-179428314-T-G | c.74841A>C | p.Arg24947Ser | Missense | 275/312 | - | 1 |
2-179428522-G-A | c.74633C>T | p.Ala24878Val | Missense | 275/312 | - | 1 |
2-179428584-C-G | c.74571G>C | p.Gln24857His | Missense | 275/312 | - | 1 |
2-179428584-C-A | c.74571G>T | p.Gln24857His | Missense | 275/312 | - | 1 |
2-179428778-G-C | c.74377C>G | p.Pro24793Ala | Missense | 275/312 | - | 1 |
2-179428789-G-C | c.74366C>G | p.Thr24789Arg | Missense | 275/312 | - | 2 |
2-179428840-A-T | c.74315T>A | p.Ile24772Lys | Missense | 275/312 | - | 1 |
2-179428960-C-T | c.74195G>A | p.Arg24732His | Missense | 275/312 | - | 1 |
2-179430391-C-A | c.72764G>T | p.Gly24255Val | Missense | 275/312 | - | 1 |
2-179430592-C-G | c.72563G>C | p.Arg24188Thr | Missense | 275/312 | - | 1 |
2-179430650-A-T | c.72505T>A | p.Cys24169Ser | Missense | 275/312 | - | 1 |
2-179430997-G-A | c.72158C>T | p.Thr24053Met | Missense | 275/312 | - | 1 |
2-179430997-G-T | c.72158C>A | p.Thr24053Lys | Missense | 275/312 | - | 1 |
2-179431057-C-G | c.72098G>C | p.Gly24033Ala | Missense | 275/312 | - | 1 |
2-179431552-C-T | c.71603G>A | p.Cys23868Tyr | Missense | 275/312 | - | 1 |
2-179431736-A-G | c.71419T>C | p.Ser23807Pro | Missense | 275/312 | - | 1 |
2-179431930-G-A | c.71225C>T | p.Pro23742Leu | Missense | 275/312 | - | 1 |
2-179432130-TCTTT-T | c.71024_71027del | p.Lys23675Thrfs*10 | Frameshift | 275/312 | - | 1 |
2-179432185-A-G | c.70970T>C | p.Ile23657Thr | Missense | 275/312 | - | 4 |
2-179432576-G-C | c.70579C>G | p.Pro23527Ala | Missense | 275/312 | - | 1 |
2-179432699-T-G | c.70456A>C | p.Asn23486His | Missense | 275/312 | - | 1 |
2-179432729-T-C | c.70426A>G | p.Ile23476Val | Missense | 275/312 | - | 1 |
2-179432764-C-G | c.70391G>C | p.Arg23464Thr | Missense | 275/312 | - | 1 |
2-179433011-G-A | c.70144C>T | p.Leu23382Phe | Missense | 275/312 | - | 1 |
2-179433011-G-C | c.70144C>G | p.Leu23382Val | Missense | 275/312 | - | 1 |
2-179433046-C-G | c.70109G>C | p.Trp23370Ser | Missense | 275/312 | - | 1 |
2-179433172-C-A | c.69983G>T | p.Gly23328Val | Missense | 275/312 | - | 1 |
2-179433257-A-G | c.69898T>C | p.Tyr23300His | Missense | 275/312 | - | 1 |
2-179434186-T-A | c.68969A>T | p.Asp22990Val | Missense | 275/312 | - | 1 |
2-179434249-C-T | c.68906G>A | p.Arg22969His | Missense | 275/312 | - | 1 |
2-179434477-A-G | c.68678T>C | p.Ile22893Thr | Missense | 275/312 | - | 1 |
2-179434795-T-C | c.68360A>G | p.His22787Arg | Missense | 275/312 | - | 1 |
2-179435018-C-A | c.68137G>T | p.Ala22713Ser | Missense | 275/312 | - | 1 |
2-179435035-T-C | c.68120A>G | p.Tyr22707Cys | Missense | 275/312 | - | 1 |
2-179435133-CC-C | c.68023del | p.Glu22675Lysfs*8 | Frameshift | 275/312 | - | 1 |
2-179435337-T-G | c.67818A>C | p.Ala22606Ala | Synonymous | 275/312 | - | 1 |
2-179435337-T-C | c.67818A>G | p.Ala22606Ala | Synonymous | 275/312 | - | 1 |
2-179435636-G-A | c.67519C>T | p.His22507Tyr | Missense | 275/312 | - | 1 |
2-179435891-C-T | c.67264G>A | p.Gly22422Ser | Missense | 275/312 | - | 1 |
2-179435964-T-G | c.67191A>C | p.Gln22397His | Missense | 275/312 | - | 1 |
2-179436020-G-A | c.67135C>T | p.Arg22379Cys | Missense | 275/312 | - | 2 |
2-179436332-T-C | c.66823A>G | p.Asn22275Asp | Missense | 275/312 | - | 1 |
2-179436532-T-C | c.66623A>G | p.Lys22208Arg | Missense | 275/312 | - | 1 |
2-179436870-C-A | c.66285G>T | p.Trp22095Cys | Missense | 275/312 | - | 1 |
2-179437292-G-A | c.65863C>T | p.Pro21955Ser | Missense | 275/312 | - | 1 |
2-179437342-C-T | c.65813G>A | p.Gly21938Asp | Missense | 275/312 | - | 1 |
2-179437474-CC-C | c.65683del | p.Ala21895Profs*8 | Frameshift | 275/312 | - | 1 |
2-179437819-G-A | c.65336C>T | p.Pro21779Leu | Missense | 275/312 | - | 1 |
2-179438185-G-A | c.64970C>T | p.Pro21657Leu | Missense | 275/312 | - | 1 |
2-179438273-G-A | c.64882C>T | p.Arg21628Cys | Missense | 275/312 | - | 1 |
2-179438480-C-T | c.64675G>A | p.Glu21559Lys | Missense | 275/312 | - | 1 |
2-179438866-C-T | c.64289G>A | p.Arg21430His | Missense | 275/312 | - | 1 |
2-179439104-T-C | c.64051A>G | p.Met21351Val | Missense | 275/312 | - | 1 |
2-179439154-A-G | c.64001T>C | p.Ile21334Thr | Missense | 275/312 | - | 1 |
2-179439490-C-T | c.63665G>A | p.Arg21222His | Missense | 275/312 | - | 1 |
2-179439497-C-T | c.63658G>A | p.Ala21220Thr | Missense | 275/312 | - | 1 |
2-179439503-A-G | c.63652T>C | p.Tyr21218His | Missense | 275/312 | - | 1 |
2-179439628-A-G | c.63527T>C | p.Val21176Ala | Missense | 275/312 | - | 1 |
2-179439716-C-T | c.63439G>A | p.Val21147Ile | Missense | 275/312 | - | 1 |
2-179440231-T-A | c.62924A>T | p.Asp20975Val | Missense | 275/312 | - | 1 |
2-179440422-C-T | c.62733G>A | p.Arg20911Arg | Synonymous | 275/312 | - | 1 |
2-179440571-C-T | c.62584G>A | p.Val20862Ile | Missense | 275/312 | - | 1 |
2-179440970-T-C | c.62185A>G | p.Arg20729Gly | Missense | 275/312 | - | 2 |
2-179441113-A-C | c.62042T>G | p.Val20681Gly | Missense | 275/312 | - | 1 |
2-179441148-G-C | c.62012-5C>G | - | IntronicSNV | - | 274/311 | 1 |
2-179441463-C-T | c.61804G>A | p.Glu20602Lys | Missense | 274/312 | - | 1 |
2-179441724-C-T | c.61634G>A | p.Arg20545Gln | Missense | 273/312 | - | 1 |
2-179441985-A-G | c.61373T>C | p.Phe20458Ser | Missense | 273/312 | - | 1 |
2-179442198-C-G | c.61160G>C | p.Gly20387Ala | Missense | 273/312 | - | 1 |
2-179442720-G-A | c.60818C>T | p.Pro20273Leu | Missense | 271/312 | - | 1 |
2-179442784-C-G | c.60754G>C | p.Ala20252Pro | Missense | 271/312 | - | 2 |
2-179443416-T-G | c.60547A>C | p.Asn20183His | Missense | 270/312 | - | 1 |
2-179443559-T-C | c.60494A>G | p.Glu20165Gly | Missense | 269/312 | - | 1 |
2-179444121-C-G | c.59933-1G>C | - | IntronicSNV | - | 268/311 | 1 |
2-179444666-G-A | c.59644C>T | p.Gln19882* | Nonsense | 267/312 | - | 1 |
2-179444768-C-G | c.59542G>C | p.Ala19848Pro | Missense | 267/312 | - | 2 |
2-179444926-AA-A | c.59385del | p.Lys19796Argfs*24 | Frameshift | 267/312 | - | 1 |
2-179444939-C-T | c.59371G>A | p.Val19791Ile | Missense | 267/312 | - | 2 |
2-179445051-AA-A | c.59352del | p.Asp19785Ilefs*9 | Frameshift | 266/312 | - | 1 |
2-179446300-A-T | c.58991T>A | p.Val19664Glu | Missense | 265/312 | - | 1 |
2-179446303-C-T | c.58988G>A | p.Arg19663His | Missense | 265/312 | - | 1 |
2-179446303-C-A | c.58988G>T | p.Arg19663Leu | Missense | 265/312 | - | 1 |
2-179446666-C-T | c.58726G>A | p.Ala19576Thr | Missense | 264/312 | - | 1 |
2-179446775-TT-T | c.58620del | p.Lys19540Asnfs*4 | Frameshift | 264/312 | - | 1 |
2-179447693-G-C | c.58133C>G | p.Ser19378* | Nonsense | 262/312 | - | 1 |
2-179447848-T-G | c.57978A>C | p.Thr19326Thr | Synonymous | 262/312 | - | 1 |
2-179447848-T-C | c.57978A>G | p.Thr19326Thr | Synonymous | 262/312 | - | 1 |
2-179447848-T-A | c.57978A>T | p.Thr19326Thr | Synonymous | 262/312 | - | 1 |
2-179447901-C-A | c.57925G>T | p.Ala19309Ser | Missense | 262/312 | - | 2 |
2-179449096-G-C | c.57478C>G | p.Leu19160Val | Missense | 260/312 | - | 1 |
2-179449131-G-A | c.57443C>T | p.Ser19148Leu | Missense | 260/312 | - | 1 |
2-179449186-G-A | c.57388C>T | p.Arg19130Cys | Missense | 260/312 | - | 1 |
2-179449606-C-T | c.57058G>A | p.Gly19020Arg | Missense | 259/312 | - | 1 |
2-179449998-A-C | c.56769T>G | p.Tyr18923* | Nonsense | 258/312 | - | 1 |
2-179449998-A-T | c.56769T>A | p.Tyr18923* | Nonsense | 258/312 | - | 1 |
2-179450063-T-C | c.56704A>G | p.Ile18902Val | Missense | 258/312 | - | 1 |
2-179451420-G-A | c.56504C>T | p.Thr18835Ile | Missense | 257/312 | - | 4 |
2-179452470-C-A | c.55862G>T | p.Gly18621Val | Missense | 255/312 | - | 1 |
2-179452695-C-T | c.55735G>A | p.Ala18579Thr | Missense | 254/312 | - | 2 |
2-179453288-G-A | c.55460C>T | p.Pro18487Leu | Missense | 253/312 | - | 1 |
2-179453397-G-A | c.55351C>T | p.Pro18451Ser | Missense | 253/312 | - | 1 |
2-179453553-G-A | c.55195C>T | p.Pro18399Ser | Missense | 253/312 | - | 1 |
2-179454394-A-G | c.54354T>C | p.Tyr18118Tyr | Synonymous | 253/312 | - | 2 |
2-179454576-G-A | c.54172C>T | p.Arg18058* | Nonsense | 253/312 | - | 1 |
2-179455207-T-C | c.53541A>G | p.Thr17847Thr | Synonymous | 253/312 | - | 1 |
2-179455401-C-A | c.53347G>T | p.Ala17783Ser | Missense | 253/312 | - | 1 |
2-179455602-T-TC | c.53145_53146insG | p.Thr17716Aspfs*2 | Frameshift | 253/312 | - | 1 |
2-179455631-G-A | c.53117C>T | p.Pro17706Leu | Missense | 253/312 | - | 2 |
2-179455839-T-C | c.52909A>G | p.Ile17637Val | Missense | 253/312 | - | 1 |
2-179455902-C-T | c.52846G>A | p.Val17616Ile | Missense | 253/312 | - | 1 |
2-179455928-G-A | c.52820C>T | p.Pro17607Leu | Missense | 253/312 | - | 1 |
2-179456501-T-G | c.52341A>C | p.Glu17447Asp | Missense | 252/312 | - | 1 |
2-179457145-C-T | c.51883G>A | p.Ala17295Thr | Missense | 250/312 | - | 1 |
2-179457147-G-A | c.51881C>T | p.Pro17294Leu | Missense | 250/312 | - | 2 |
2-179457367-C-T | c.51661G>A | p.Asp17221Asn | Missense | 250/312 | - | 1 |
2-179457532-GG-G | c.51611del | p.Pro17204Argfs*5 | Frameshift | 249/312 | - | 1 |
2-179458002-G-A | c.51229C>T | p.Leu17077Leu | Synonymous | 248/312 | - | 1 |
2-179458477-A-G | c.50846T>C | p.Ile16949Thr | Missense | 247/312 | - | 1 |
2-179458511-C-G | c.50812G>C | p.Asp16938His | Missense | 247/312 | - | 1 |
2-179458568-C-A | c.50755G>T | p.Val16919Phe | Missense | 247/312 | - | 1 |
2-179458591-C-T | c.50732G>A | p.Arg16911His | Missense | 247/312 | - | 1 |
2-179458591-C-A | c.50732G>T | p.Arg16911Leu | Missense | 247/312 | - | 1 |
2-179459377-C-T | c.50144-4G>A | - | IntronicSNV | - | 244/311 | 1 |
2-179460228-A-T | c.50143+6T>A | - | IntronicSNV | - | 244/311 | 1 |
2-179460249-T-C | c.50128A>G | p.Ile16710Val | Missense | 244/312 | - | 1 |
2-179462142-A-G | c.49840+123T>C | - | IntronicSNV | - | 243/311 | 1 |
2-179462318-A-G | c.49787T>C | p.Leu16596Pro | Missense | 243/312 | - | 1 |
2-179462367-T-C | c.49738A>G | p.Met16580Val | Missense | 243/312 | - | 1 |
2-179462494-A-G | c.49611T>C | p.His16537His | Synonymous | 243/312 | - | 1 |
2-179462735-C-T | c.49458G>A | p.Lys16486Lys | Synonymous | 242/312 | - | 1 |
2-179463490-C-T | c.49243G>A | p.Ala16415Thr | Missense | 240/312 | - | 3 |
2-179463751-C-T | c.48982G>A | p.Val16328Met | Missense | 240/312 | - | 1 |
2-179464373-G-A | c.48551C>T | p.Pro16184Leu | Missense | 238/312 | - | 1 |
2-179464527-T-C | c.48397A>G | p.Asn16133Asp | Missense | 238/312 | - | 4 |
2-179464527-T-A | c.48397A>T | p.Asn16133Tyr | Missense | 238/312 | - | 4 |
2-179465601-A-AA | c.48326dup | p.Thr16110Aspfs*12 | Frameshift | 237/312 | - | 1 |
2-179466171-T-C | c.47849A>G | p.Lys15950Arg | Missense | 236/312 | - | 1 |
2-179466177-A-AA | c.47844dup | p.Glu15949* | Nonsense | 236/312 | - | 1 |
2-179466466-G-A | c.47647C>T | p.Arg15883* | Nonsense | 235/312 | - | 1 |
2-179466793-A-C | c.47501T>G | p.Ile15834Ser | Missense | 233/312 | - | 1 |
2-179467246-G-A | c.47179C>T | p.Pro15727Ser | Missense | 232/312 | - | 1 |
2-179467316-A-C | c.47109T>G | p.Phe15703Leu | Missense | 232/312 | - | 1 |
2-179468909-G-T | c.46801C>A | p.Pro15601Thr | Missense | 231/312 | - | 1 |
2-179469502-C-T | c.46610G>A | p.Arg15537His | Missense | 230/312 | - | 2 |
2-179469837-G-A | c.46363C>T | p.Arg15455* | Nonsense | 229/312 | - | 1 |
2-179472202-T-A | c.45509A>T | p.Asp15170Val | Missense | 226/312 | - | 1 |
2-179472292-T-A | c.45419A>T | p.Lys15140Ile | Missense | 226/312 | - | 1 |
2-179472320-G-A | c.45391C>T | p.Arg15131Cys | Missense | 226/312 | - | 1 |
2-179472763-G-A | c.45047C>T | p.Thr15016Ile | Missense | 225/312 | - | 1 |
2-179472905-CAGAT-C | c.44998_45001del | p.Ile15000Leufs*20 | SpliceDonorDeletion | 224/312 | - | 1 |
2-179472938-G-A | c.44968C>T | p.Pro14990Ser | Missense | 224/312 | - | 1 |
2-179473074-G-C | c.44832C>G | p.Asn14944Lys | Missense | 224/312 | - | 1 |
2-179473586-AGGTCTTTCTGATATCTTCAA-A | c.44430_44449del | p.Glu14811Serfs*4 | Frameshift | 223/312 | - | 1 |
2-179473599-T-A | c.44435A>T | p.Asp14812Val | Missense | 223/312 | - | 1 |
2-179474228-C-A | c.44105G>T | p.Ser14702Ile | Missense | 222/312 | - | 2 |
2-179474623-C-G | c.43823G>C | p.Gly14608Ala | Missense | 221/312 | - | 1 |
2-179474668-G-A | c.43778C>T | p.Ala14593Val | Missense | 221/312 | - | 1 |
2-179474921-A-ATA | c.43628_43629insAT | p.Ile14544Serfs*25 | Frameshift | 220/312 | - | 5 |
2-179474996-C-G | c.43553G>C | p.Arg14518Pro | Missense | 220/312 | - | 1 |
2-179474996-C-T | c.43553G>A | p.Arg14518His | Missense | 220/312 | - | 1 |
2-179476545-C-T | c.42787G>A | p.Glu14263Lys | Missense | 217/312 | - | 1 |
2-179476887-T-C | c.42547A>G | p.Thr14183Ala | Missense | 216/312 | - | 1 |
2-179477940-TCC-TGT | c.41890_41891delinsAC | p.Gly13964Thr | Missense | 213/312 | - | 1 |
2-179479230-A-C | c.41307T>G | p.Cys13769Trp | Missense | 210/312 | - | 1 |
2-179479288-A-G | c.41249T>C | p.Ile13750Thr | Missense | 210/312 | - | 2 |
2-179479607-G-A | c.41023C>T | p.Pro13675Ser | Missense | 209/312 | - | 1 |
2-179480172-C-T | c.40796G>A | p.Arg13599Gln | Missense | 208/312 | - | 1 |
2-179480410-G-A | c.40714C>T | p.Pro13572Ser | Missense | 207/312 | - | 1 |
2-179481235-G-A | c.40579C>T | p.Arg13527* | Nonsense | 206/312 | - | 1 |
2-179481355-G-A | c.40459C>T | p.Arg13487Cys | Missense | 206/312 | - | 1 |
2-179481548-G-A | c.40364C>T | p.Ser13455Phe | Missense | 205/312 | - | 1 |
2-179481602-G-C | c.40310C>G | p.Thr13437Arg | Missense | 205/312 | - | 1 |
2-179482584-G-A | c.39790C>T | p.Arg13264* | Nonsense | 202/312 | - | 1 |
2-179482937-C-T | c.39544G>A | p.Val13182Ile | Missense | 201/312 | - | 1 |
2-179482994-G-A | c.39487C>T | p.Arg13163Cys | Missense | 201/312 | - | 2 |
2-179483430-G-C | c.39143C>G | p.Thr13048Arg | Missense | 200/312 | - | 1 |
2-179483430-G-A | c.39143C>T | p.Thr13048Met | Missense | 200/312 | - | 1 |
2-179483495-G-T | c.39078C>A | p.Tyr13026* | Nonsense | 200/312 | - | 1 |
2-179483495-G-A | c.39078C>T | p.Tyr13026Tyr | Synonymous | 200/312 | - | 1 |
2-179484555-C-A | c.38785G>T | p.Val12929Phe | Missense | 199/312 | - | 1 |
2-179484757-C-G | c.38683G>C | p.Gly12895Arg | Missense | 198/312 | - | 1 |
2-179484757-C-T | c.38683G>A | p.Gly12895Arg | Missense | 198/312 | - | 1 |
2-179485183-C-G | c.38361G>C | p.Lys12787Asn | Missense | 197/312 | - | 1 |
2-179485700-G-A | c.37933C>T | p.Pro12645Ser | Missense | 196/312 | - | 1 |
2-179485865-CC-C | c.37879del | p.Ala12627Profs*8 | Frameshift | 195/312 | - | 1 |
2-179485934-C-G | c.37807G>C | p.Gly12603Arg | Missense | 195/312 | - | 1 |
2-179486037-C-A | c.37704G>T | p.Lys12568Asn | Missense | 195/312 | - | 1 |
2-179486223-C-T | c.37624G>A | p.Asp12542Asn | Missense | 194/312 | - | 2 |
2-179486345-T-A | c.37502A>T | p.Glu12501Val | Missense | 194/312 | - | 1 |
2-179487495-C-T | c.37112-1G>A | - | IntronicSNV | - | 191/311 | 1 |
2-179488194-C-T | c.37112-700G>A | - | IntronicSNV | - | 191/311 | 2 |
2-179488194-C-A | c.37112-700G>T | - | IntronicSNV | - | 191/311 | 1 |
2-179489726-A-G | c.36845-268T>C | - | IntronicSNV | - | 190/311 | 1 |
2-179491235-T-G | c.36721-1112A>C | - | IntronicSNV | - | 189/311 | 1 |
2-179495857-G-A | c.36214C>T | p.Arg12072Cys | Missense | 186/312 | - | 1 |
2-179497090-T-TT | c.35828dup | p.Glu11944Glyfs*12 | Frameshift | 185/312 | - | 1 |
2-179498042-T-C | c.35254A>G | p.Lys11752Glu | Missense | 182/312 | - | 1 |
2-179498303-T-C | c.35079A>G | p.Lys11693Lys | Synonymous | 181/312 | - | 1 |
2-179498303-T-A | c.35079A>T | p.Lys11693Asn | Missense | 181/312 | - | 1 |
2-179498627-A-AC | c.34894_34895insG | p.Met11632Serfs*8 | Frameshift | 180/312 | - | 1 |
2-179499252-A-T | c.34552T>A | p.Ser11518Thr | Missense | 179/312 | - | 1 |
2-179499525-C-G | c.34372G>C | p.Val11458Leu | Missense | 178/312 | - | 1 |
2-179500738-C-T | c.33856G>A | p.Val11286Met | Missense | 175/312 | - | 1 |
2-179501234-G-C | c.33516C>G | p.Asp11172Glu | Missense | 174/312 | - | 1 |
2-179501350-A-G | c.33400T>C | p.Ser11134Pro | Missense | 174/312 | - | 1 |
2-179501463-C-T | c.33287G>A | p.Gly11096Asp | Missense | 174/312 | - | 1 |
2-179505896-A-G | c.32929+72T>C | - | IntronicSNV | - | 169/311 | 1 |
2-179506017-T-G | c.32880A>C | p.Glu10960Asp | Missense | 169/312 | - | 1 |
2-179506964-C-G | c.32854G>C | p.Val10952Leu | Missense | 168/312 | - | 3 |
2-179506964-C-T | c.32854G>A | p.Val10952Ile | Missense | 168/312 | - | 1 |
2-179514433-T-C | c.32593+111A>G | - | IntronicSNV | - | 165/311 | 1 |
2-179515472-G-A | c.32407+6C>T | - | IntronicSNV | - | 163/311 | 1 |
2-179516234-C-T | c.32191G>A | p.Glu10731Lys | Missense | 161/312 | - | 1 |
2-179516235-A-AA | c.32190dup | p.Glu10731* | Nonsense | 161/312 | - | 1 |
2-179516580-G-C | c.32077+31C>G | - | IntronicSNV | - | 159/311 | 1 |
2-179516828-G-C | c.31988C>G | p.Pro10663Arg | Missense | 158/312 | - | 1 |
2-179517036-C-T | c.31864G>A | p.Val10622Met | Missense | 157/312 | - | 1 |
2-179518860-C-T | c.31742-1592G>A | - | IntronicSNV | - | 155/311 | 1 |
2-179523514-T-A | c.31741+218A>T | - | IntronicSNV | - | 155/311 | 1 |
2-179523753-G-A | c.31720C>T | p.Pro10574Ser | Missense | 155/312 | - | 1 |
2-179528068-C-A | c.31484-286G>T | - | IntronicSNV | - | 152/311 | 1 |
2-179529497-T-G | c.31484-1715A>C | - | IntronicSNV | - | 152/311 | 1 |
2-179533609-A-C | c.31483+1336T>G | - | IntronicSNV | - | 152/311 | 1 |
2-179536780-TCT-CAT | c.31241_31242delinsTG | p.Arg10414Met | Missense | 150/312 | - | 1 |
2-179537200-C-T | c.30961G>A | p.Val10321Ile | Missense | 149/312 | - | 1 |
2-179537203-C-A | c.30958G>T | p.Glu10320* | Nonsense | 149/312 | - | 1 |
2-179539088-TTCT-T | c.30760_30762del | p.Glu10254del | InFrameDeletion | 146/312 | - | 1 |
2-179542393-C-CA | c.30513_30514insT | p.Glu10172* | Nonsense | 143/312 | - | 1 |
2-179542422-G-A | c.30485C>T | p.Pro10162Leu | Missense | 143/312 | - | 1 |
2-179542464-G-A | c.30443C>T | p.Pro10148Leu | Missense | 143/312 | - | 1 |
2-179545859-C-T | c.29555G>A | p.Arg9852His | Missense | 135/312 | - | 3 |
2-179547469-C-T | c.29317G>A | p.Glu9773Lys | Missense | 132/312 | - | 1 |
2-179547491-A-T | c.29295T>A | p.Tyr9765* | Nonsense | 132/312 | - | 1 |
2-179548729-T-C | c.29071A>G | p.Lys9691Glu | Missense | 130/312 | - | 1 |
2-179549407-G-A | c.28892C>T | p.Pro9631Leu | Missense | 128/312 | - | 1 |
2-179549988-G-A | c.28730C>T | p.Pro9577Leu | Missense | 126/312 | - | 3 |
2-179552868-C-T | c.28549G>A | p.Glu9517Lys | Missense | 124/312 | - | 1 |
2-179553917-G-A | c.28280-54C>T | - | IntronicSNV | - | 121/311 | 1 |
2-179554305-C-T | c.28132G>A | p.Gly9378Arg | Missense | 120/312 | - | 3 |
2-179554624-C-T | c.28031-1G>A | - | IntronicSNV | - | 118/311 | 1 |
2-179556748-G-T | c.28025C>A | p.Pro9342Gln | Missense | 118/312 | - | 1 |
2-179557257-T-C | c.27913A>G | p.Ile9305Val | Missense | 117/312 | - | 1 |
2-179558282-T-A | c.27862+54A>T | - | IntronicSNV | - | 116/311 | 1 |
2-179558366-T-C | c.27832A>G | p.Ile9278Val | Missense | 116/312 | - | 4 |
2-179559561-G-A | c.27611C>T | p.Thr9204Ile | Missense | 113/312 | - | 1 |
2-179560597-T-C | c.27470A>G | p.Tyr9157Cys | Missense | 111/312 | - | 1 |
2-179560597-T-G | c.27470A>C | p.Tyr9157Ser | Missense | 111/312 | - | 1 |
2-179567340-G-A | c.26542C>T | p.His8848Tyr | Missense | 104/312 | - | 2 |
2-179567634-T-C | c.26492-244A>G | - | IntronicSNV | - | 103/311 | 1 |
2-179569426-T-C | c.26041A>G | p.Ile8681Val | Missense | 102/312 | - | 1 |
2-179569962-C-T | c.25811G>A | p.Arg8604Gln | Missense | 100/312 | - | 2 |
2-179569989-G-A | c.25784C>T | p.Ala8595Val | Missense | 100/312 | - | 1 |
2-179571225-C-G | c.25644G>C | p.Lys8548Asn | Missense | 99/312 | - | 1 |
2-179571225-C-A | c.25644G>T | p.Lys8548Asn | Missense | 99/312 | - | 1 |
2-179571272-G-A | c.25597C>T | p.His8533Tyr | Missense | 99/312 | - | 1 |
2-179571370-C-T | c.25499G>A | p.Arg8500His | Missense | 99/312 | - | 2 |
2-179574358-A-C | c.24956T>G | p.Leu8319Trp | Missense | 96/312 | - | 1 |
2-179574438-TTGGTTGTATCTCTAT-T | c.24863_24877del | p.Ile8288_Pro8292del | InFrameDeletion | 96/312 | - | 1 |
2-179575511-C-T | c.24581G>A | p.Arg8194Gln | Missense | 95/312 | - | 1 |
2-179575637-G-A | c.24455C>T | p.Pro8152Leu | Missense | 95/312 | - | 1 |
2-179575832-G-T | c.24399C>A | p.Asn8133Lys | Missense | 94/312 | - | 1 |
2-179575832-G-A | c.24399C>T | p.Asn8133Asn | Synonymous | 94/312 | - | 1 |
2-179575836-G-C | c.24395C>G | p.Thr8132Arg | Missense | 94/312 | - | 1 |
2-179576733-T-C | c.24092A>G | p.Tyr8031Cys | Missense | 93/312 | - | 2 |
2-179577523-C-G | c.23497G>C | p.Glu7833Gln | Missense | 91/312 | - | 1 |
2-179577628-C-T | c.23392G>A | p.Val7798Ile | Missense | 91/312 | - | 1 |
2-179577700-G-A | c.23320C>T | p.Pro7774Ser | Missense | 91/312 | - | 1 |
2-179577929-C-G | c.23200G>C | p.Asp7734His | Missense | 90/312 | - | 1 |
2-179577998-T-C | c.23131A>G | p.Ile7711Val | Missense | 90/312 | - | 2 |
2-179578012-T-C | c.23117A>G | p.Tyr7706Cys | Missense | 90/312 | - | 1 |
2-179578704-G-A | c.22949C>T | p.Pro7650Leu | Missense | 89/312 | - | 1 |
2-179578730-G-A | c.22923C>T | p.Ser7641Ser | Synonymous | 89/312 | - | 1 |
2-179578791-T-C | c.22862A>G | p.Lys7621Arg | Missense | 89/312 | - | 1 |
2-179578857-G-A | c.22796C>T | p.Thr7599Met | Missense | 89/312 | - | 1 |
2-179578882-T-A | c.22771A>T | p.Lys7591* | Nonsense | 89/312 | - | 1 |
2-179578891-T-C | c.22762A>G | p.Ile7588Val | Missense | 89/312 | - | 1 |
2-179579212-T-C | c.22557A>G | p.Glu7519Glu | Synonymous | 88/312 | - | 1 |
2-179579769-C-T | c.22412G>A | p.Cys7471Tyr | Missense | 87/312 | - | 1 |
2-179579822-T-A | c.22359A>T | p.Leu7453Leu | Synonymous | 87/312 | - | 1 |
2-179579858-G-A | c.22323C>T | p.Ser7441Ser | Synonymous | 87/312 | - | 1 |
2-179580418-C-A | c.21991G>T | p.Gly7331Trp | Missense | 86/312 | - | 1 |
2-179580448-C-T | c.21961G>A | p.Glu7321Lys | Missense | 86/312 | - | 1 |
2-179582327-C-T | c.21542G>A | p.Ser7181Asn | Missense | 84/312 | - | 2 |
2-179582537-G-T | c.21332C>A | p.Ala7111Glu | Missense | 84/312 | - | 2 |
2-179582537-G-A | c.21332C>T | p.Ala7111Val | Missense | 84/312 | - | 1 |
2-179582678-A-G | c.21323T>C | p.Val7108Ala | Missense | 83/312 | - | 1 |
2-179582913-C-T | c.21088G>A | p.Glu7030Lys | Missense | 83/312 | - | 2 |
2-179583282-G-C | c.20819C>G | p.Thr6940Arg | Missense | 82/312 | - | 1 |
2-179585170-G-A | c.19587C>T | p.His6529His | Synonymous | 77/312 | - | 1 |
2-179585187-C-T | c.19570G>A | p.Asp6524Asn | Missense | 77/312 | - | 1 |
2-179585257-G-C | c.19500C>G | p.Asn6500Lys | Missense | 77/312 | - | 1 |
2-179585312-G-A | c.19445C>T | p.Ser6482Leu | Missense | 77/312 | - | 2 |
2-179585393-A-G | c.19367-3T>C | - | IntronicSNV | - | 76/311 | 1 |
2-179586645-G-C | c.19013C>G | p.Ser6338Cys | Missense | 75/312 | - | 1 |
2-179586688-T-G | c.18970A>C | p.Asn6324His | Missense | 75/312 | - | 2 |
2-179587094-C-T | c.18688G>A | p.Ala6230Thr | Missense | 74/312 | - | 1 |
2-179587130-C-T | c.18652G>A | p.Asp6218Asn | Missense | 74/312 | - | 1 |
2-179587130-C-G | c.18652G>C | p.Asp6218His | Missense | 74/312 | - | 1 |
2-179587505-G-C | c.18389C>G | p.Thr6130Arg | Missense | 73/312 | - | 1 |
2-179587646-G-A | c.18248C>T | p.Thr6083Met | Missense | 73/312 | - | 1 |
2-179587687-T-C | c.18230-23A>G | - | IntronicSNV | - | 72/311 | 3 |
2-179587773-C-T | c.18229G>A | p.Glu6077Lys | Missense | 72/312 | - | 1 |
2-179587950-T-A | c.18052A>T | p.Thr6018Ser | Missense | 72/312 | - | 1 |
2-179587949-G-C | c.18053C>G | p.Thr6018Ser | Missense | 72/312 | - | 1 |
2-179587955-G-T | c.18047C>A | p.Ser6016Tyr | Missense | 72/312 | - | 1 |
2-179588159-C-T | c.17936G>A | p.Arg5979His | Missense | 71/312 | - | 1 |
2-179588622-C-T | c.17632G>A | p.Ala5878Thr | Missense | 70/312 | - | 1 |
2-179588654-A-G | c.17600T>C | p.Met5867Thr | Missense | 70/312 | - | 1 |
2-179588813-C-T | c.17441G>A | p.Gly5814Asp | Missense | 70/312 | - | 1 |
2-179588867-C-A | c.17387G>T | p.Arg5796Leu | Missense | 70/312 | - | 1 |
2-179589241-G-A | c.17129C>T | p.Ala5710Val | Missense | 69/312 | - | 2 |
2-179590133-C-G | c.17066G>C | p.Gly5689Ala | Missense | 68/312 | - | 1 |
2-179590564-C-T | c.16753G>A | p.Gly5585Ser | Missense | 67/312 | - | 1 |
2-179590565-G-C | c.16752C>G | p.Ile5584Met | Missense | 67/312 | - | 1 |
2-179590708-C-T | c.16609G>A | p.Glu5537Lys | Missense | 67/312 | - | 1 |
2-179592504-G-A | c.16069C>T | p.Pro5357Ser | Missense | 65/312 | - | 1 |
2-179593074-C-A | c.15745G>T | p.Val5249Phe | Missense | 64/312 | - | 1 |
2-179593243-G-T | c.15678C>A | p.Ala5226Ala | Synonymous | 63/312 | - | 2 |
2-179593243-G-C | c.15678C>G | p.Ala5226Ala | Synonymous | 63/312 | - | 2 |
2-179593243-G-A | c.15678C>T | p.Ala5226Ala | Synonymous | 63/312 | - | 2 |
2-179593296-C-T | c.15625G>A | p.Gly5209Ser | Missense | 63/312 | - | 1 |
2-179593352-C-T | c.15569G>A | p.Ser5190Asn | Missense | 63/312 | - | 1 |
2-179593749-T-C | c.15284A>G | p.Tyr5095Cys | Missense | 62/312 | - | 1 |
2-179594164-C-T | c.14987G>A | p.Arg4996Gln | Missense | 61/312 | - | 1 |
2-179594275-CT-CA | c.14875delinsT | p.Arg4959* | Missense | 61/312 | - | 1 |
2-179594430-C-T | c.14818G>A | p.Ala4940Thr | Missense | 60/312 | - | 1 |
2-179594551-CCC-AAC | c.14696_14697delinsTT | p.Gly4899Val | Missense | 60/312 | - | 1 |
2-179594552-CC-CA | c.14695delinsT | p.Gly4899Trp | Missense | 60/312 | - | 1 |
2-179594572-TCG-TGG | c.14675delinsC | p.Arg4892Pro | Missense | 60/312 | - | 1 |
2-179594573-C-T | c.14675G>A | p.Arg4892Gln | Missense | 60/312 | - | 1 |
2-179594825-A-T | c.14570T>A | p.Val4857Glu | Missense | 59/312 | - | 1 |
2-179594832-G-A | c.14563C>T | p.Leu4855Phe | Missense | 59/312 | - | 4 |
2-179595082-CAC-ATC | c.14312_14313delinsAT | p.Val4771Asp | Missense | 59/312 | - | 1 |
2-179595274-T-G | c.14254A>C | p.Lys4752Gln | Missense | 58/312 | - | 1 |
2-179595703-C-A | c.13957G>T | p.Val4653Phe | Missense | 57/312 | - | 1 |
2-179595849-C-T | c.13811G>A | p.Gly4604Glu | Missense | 57/312 | - | 1 |
2-179596106-T-C | c.13655A>G | p.His4552Arg | Missense | 56/312 | - | 1 |
2-179596538-C-G | c.13332G>C | p.Gln4444His | Missense | 55/312 | - | 1 |
2-179596801-A-G | c.13163T>C | p.Ile4388Thr | Missense | 54/312 | - | 1 |
2-179597600-C-T | c.12571G>A | p.Val4191Met | Missense | 52/312 | - | 1 |
2-179597846-G-A | c.12325C>T | p.Arg4109* | Nonsense | 52/312 | - | 1 |
2-179599054-C-T | c.11764+1G>A | - | IntronicSNV | - | 49/311 | 1 |
2-179599132-G-A | c.11687C>T | p.Ala3896Val | Missense | 49/312 | - | 1 |
2-179599473-C-T | c.11446G>A | p.Val3816Ile | Missense | 48/312 | - | 1 |
2-179599647-G-A | c.11272C>T | p.His3758Tyr | Missense | 48/312 | - | 1 |
2-179599667-G-C | c.11252C>G | p.Pro3751Arg | Missense | 48/312 | - | 1 |
2-179600475-C-T | c.10966G>A | p.Ala3656Thr | Missense | 47/312 | - | 2 |
2-179600475-C-A | c.10966G>T | p.Ala3656Ser | Missense | 47/312 | - | 2 |
2-179600475-C-G | c.10966G>C | p.Ala3656Pro | Missense | 47/312 | - | 1 |
2-179600687-T-G | c.10754A>C | p.Gln3585Pro | Missense | 47/312 | - | 1 |
2-179600701-T-C | c.10740A>G | p.Ile3580Met | Missense | 47/312 | - | 1 |
2-179600715-C-T | c.10726G>A | p.Gly3576Arg | Missense | 47/312 | - | 1 |
2-179602945-C-G | c.10503G>C | p.Lys3501Asn | Missense | 46/312 | - | 1 |
2-179603094-AA-A | c.10361-5del | - | IntronicDeletion | - | 45/311 | 1 |
2-179603225-G-A | c.10361-138C>T | - | IntronicSNV | - | 45/311 | 1 |
2-179604366-T-C | c.10361-1279A>G | - | IntronicSNV | - | 45/311 | 1 |
2-179604366-T-G | c.10361-1279A>C | - | IntronicSNV | - | 45/311 | 1 |
2-179605180-C-T | c.10361-2093G>A | - | IntronicSNV | - | 45/311 | 2 |
2-179605180-C-A | c.10361-2093G>T | - | IntronicSNV | - | 45/311 | 2 |
2-179606538-G-A | c.10361-3451C>T | - | IntronicSNV | - | 45/311 | 3 |
2-179609245-A-G | c.10361-6158T>C | - | IntronicSNV | - | 45/311 | 1 |
2-179612873-T-G | c.10360+4978A>C | - | IntronicSNV | - | 45/311 | 1 |
2-179615306-G-A | c.10360+2545C>T | - | IntronicSNV | - | 45/311 | 1 |
2-179615306-G-T | c.10360+2545C>A | - | IntronicSNV | - | 45/311 | 1 |
2-179615887-T-C | c.10360+1964A>G | - | IntronicSNV | - | 45/311 | 3 |
2-179615931-C-G | c.10360+1920G>C | - | IntronicSNV | - | 45/311 | 2 |
2-179617534-A-G | c.10360+317T>C | - | IntronicSNV | - | 45/311 | 1 |
2-179618462-C-T | c.10304-555G>A | - | IntronicSNV | - | 44/311 | 1 |
2-179619958-C-A | c.10304-2051G>T | - | IntronicSNV | - | 44/311 | 1 |
2-179620951-C-T | c.10303+2760G>A | - | IntronicSNV | - | 44/311 | 2 |
2-179621477-C-T | c.10303+2234G>A | - | IntronicSNV | - | 44/311 | 2 |
2-179623758-C-T | c.10256G>A | p.Ser3419Asn | Missense | 44/312 | - | 5 |
2-179628362-G-A | c.10114+542C>T | - | IntronicSNV | - | 43/311 | 1 |
2-179628369-G-T | c.10114+535C>A | - | IntronicSNV | - | 43/311 | 1 |
2-179628909-C-G | c.10109G>C | p.Gly3370Ala | Missense | 43/312 | - | 1 |
2-179628969-G-A | c.10049C>T | p.Pro3350Leu | Missense | 43/312 | - | 1 |
2-179628988-G-A | c.10030C>T | p.Pro3344Ser | Missense | 43/312 | - | 1 |
2-179629284-C-T | c.9958G>A | p.Ala3320Thr | Missense | 42/312 | - | 1 |
2-179629287-C-T | c.9955G>A | p.Val3319Ile | Missense | 42/312 | - | 1 |
2-179629385-T-C | c.9857A>G | p.Lys3286Arg | Missense | 42/312 | - | 1 |
2-179629461-C-G | c.9781G>C | p.Val3261Leu | Missense | 42/312 | - | 4 |
2-179629461-C-T | c.9781G>A | p.Val3261Met | Missense | 42/312 | - | 5 |
2-179629493-A-C | c.9749T>G | p.Val3250Gly | Missense | 42/312 | - | 1 |
2-179629515-G-A | c.9727C>T | p.Gln3243* | Nonsense | 42/312 | - | 1 |
2-179631214-T-C | c.9597A>G | p.Glu3199Glu | Synonymous | 41/312 | - | 1 |
2-179631232-TCG-AGC | c.9577_9579delinsGCT | p.Arg3193Ala | Missense | 41/312 | - | 1 |
2-179631234-G-A | c.9577C>T | p.Arg3193* | Nonsense | 41/312 | - | 1 |
2-179632133-A-G | c.9471+353T>C | - | IntronicSNV | - | 40/311 | 1 |
2-179632133-A-T | c.9471+353T>A | - | IntronicSNV | - | 40/311 | 1 |
2-179632598-C-T | c.9359G>A | p.Arg3120Gln | Missense | 40/312 | - | 1 |
2-179632619-C-T | c.9338G>A | p.Arg3113His | Missense | 40/312 | - | 1 |
2-179632710-T-C | c.9305+31A>G | - | IntronicSNV | - | 39/311 | 1 |
2-179632835-C-G | c.9211G>C | p.Glu3071Gln | Missense | 39/312 | - | 1 |
2-179633490-G-C | c.9073C>G | p.Leu3025Val | Missense | 38/312 | - | 1 |
2-179633643-T-C | c.8920A>G | p.Met2974Val | Missense | 38/312 | - | 1 |
2-179634421-T-G | c.8887A>C | p.Thr2963Pro | Missense | 37/312 | - | 2 |
2-179634424-C-T | c.8884G>A | p.Ala2962Thr | Missense | 37/312 | - | 1 |
2-179634555-C-G | c.8753G>C | p.Gly2918Ala | Missense | 37/312 | - | 1 |
2-179634559-T-G | c.8749A>C | p.Asn2917His | Missense | 37/312 | - | 1 |
2-179634621-G-A | c.8687C>T | p.Thr2896Ile | Missense | 37/312 | - | 4 |
2-179634802-T-C | c.8626A>G | p.Lys2876Glu | Missense | 36/312 | - | 1 |
2-179634837-T-C | c.8591A>G | p.Tyr2864Cys | Missense | 36/312 | - | 1 |
2-179634896-TGA-GAC | c.8530_8532delinsGTC | p.Ser2844Val | Missense | 36/312 | - | 1 |
2-179634903-A-G | c.8525T>C | p.Leu2842Pro | Missense | 36/312 | - | 1 |
2-179634919-T-A | c.8509A>T | p.Ser2837Cys | Missense | 36/312 | - | 1 |
2-179634942-T-C | c.8486A>G | p.His2829Arg | Missense | 36/312 | - | 1 |
2-179634988-AA-A | c.8442del | p.Phe2814Leufs*12 | Frameshift | 36/312 | - | 1 |
2-179635005-T-TT | c.8426dup | p.Asn2809Lysfs*7 | Frameshift | 36/312 | - | 1 |
2-179635351-T-G | c.8168A>C | p.Asp2723Ala | Missense | 35/312 | - | 1 |
2-179635998-T-C | c.8056A>G | p.Ile2686Val | Missense | 34/312 | - | 1 |
2-179636093-C-T | c.7961G>A | p.Arg2654Lys | Missense | 34/312 | - | 1 |
2-179637878-A-T | c.7813T>A | p.Tyr2605Asn | Missense | 33/312 | - | 1 |
2-179638594-A-T | c.7301T>A | p.Leu2434His | Missense | 31/312 | - | 1 |
2-179638606-G-A | c.7289C>T | p.Pro2430Leu | Missense | 31/312 | - | 1 |
2-179638721-C-T | c.7174G>A | p.Gly2392Ser | Missense | 31/312 | - | 1 |
2-179638730-T-G | c.7165A>C | p.Met2389Leu | Missense | 31/312 | - | 1 |
2-179638730-T-A | c.7165A>T | p.Met2389Leu | Missense | 31/312 | - | 1 |
2-179638736-C-T | c.7159G>A | p.Val2387Ile | Missense | 31/312 | - | 1 |
2-179638831-G-A | c.7064C>T | p.Pro2355Leu | Missense | 31/312 | - | 1 |
2-179638832-GGG-G | c.7064_7065del | p.Pro2355Hisfs*8 | Frameshift | 31/312 | - | 1 |
2-179638834-C-T | c.7061G>A | p.Arg2354His | Missense | 31/312 | - | 1 |
2-179639041-C-T | c.6950G>A | p.Arg2317His | Missense | 30/312 | - | 1 |
2-179639140-C-T | c.6851G>A | p.Gly2284Glu | Missense | 30/312 | - | 1 |
2-179639141-C-T | c.6850G>A | p.Gly2284Arg | Missense | 30/312 | - | 1 |
2-179639166-TG-T | c.6825del | p.Asp2275Glufs*2 | Frameshift | 30/312 | - | 1 |
2-179639297-C-T | c.6791-97G>A | - | IntronicSNV | - | 29/311 | 1 |
2-179639297-C-A | c.6791-97G>T | - | IntronicSNV | - | 29/311 | 1 |
2-179639665-G-A | c.6773C>T | p.Ala2258Val | Missense | 29/312 | - | 1 |
2-179640083-C-A | c.6508G>T | p.Ala2170Ser | Missense | 28/312 | - | 1 |
2-179640101-C-T | c.6490G>A | p.Ala2164Thr | Missense | 28/312 | - | 2 |
2-179640211-GTA-G | c.6379_6380del | p.Tyr2127Leufs*8 | Frameshift | 28/312 | - | 1 |
2-179640343-C-A | c.6248G>T | p.Arg2083Ile | Missense | 28/312 | - | 1 |
2-179640428-C-T | c.6163G>A | p.Glu2055Lys | Missense | 28/312 | - | 2 |
2-179640461-C-CA | c.6129_6130insT | p.Glu2044* | Nonsense | 28/312 | - | 1 |
2-179640476-G-A | c.6115C>T | p.Leu2039Phe | Missense | 28/312 | - | 1 |
2-179640545-C-T | c.6046G>A | p.Val2016Met | Missense | 28/312 | - | 1 |
2-179640598-C-T | c.5993G>A | p.Arg1998His | Missense | 28/312 | - | 1 |
2-179640719-G-A | c.5872C>T | p.Gln1958* | Nonsense | 28/312 | - | 1 |
2-179640850-G-A | c.5741C>T | p.Ala1914Val | Missense | 28/312 | - | 1 |
2-179640851-C-T | c.5740G>A | p.Ala1914Thr | Missense | 28/312 | - | 1 |
2-179641014-C-A | c.5577G>T | p.Arg1859Ser | Missense | 28/312 | - | 1 |
2-179641033-A-T | c.5558T>A | p.Leu1853His | Missense | 28/312 | - | 1 |
2-179641172-G-A | c.5419C>T | p.Pro1807Ser | Missense | 28/312 | - | 1 |
2-179641172-G-T | c.5419C>A | p.Pro1807Thr | Missense | 28/312 | - | 1 |
2-179641208-T-A | c.5383A>T | p.Lys1795* | Nonsense | 28/312 | - | 1 |
2-179641393-G-A | c.5198C>T | p.Thr1733Met | Missense | 28/312 | - | 1 |
2-179641408-GG-TG | c.5183delinsA | p.Pro1728His | Missense | 28/312 | - | 1 |
2-179641726-C-T | c.4865G>A | p.Ser1622Asn | Missense | 28/312 | - | 1 |
2-179641928-C-G | c.4762G>C | p.Val1588Leu | Missense | 27/312 | - | 1 |
2-179641928-C-A | c.4762G>T | p.Val1588Leu | Missense | 27/312 | - | 1 |
2-179641975-C-T | c.4715G>A | p.Arg1572Gln | Missense | 27/312 | - | 1 |
2-179641975-C-A | c.4715G>T | p.Arg1572Leu | Missense | 27/312 | - | 1 |
2-179642700-GA-CT | c.4210_4211delinsAG | p.Ser1404Ser | Missense | 25/312 | - | 1 |
2-179643601-C-G | c.4208G>C | p.Arg1403Thr | Missense | 24/312 | - | 1 |
2-179643632-T-C | c.4177A>G | p.Ile1393Val | Missense | 24/312 | - | 1 |
2-179643632-T-G | c.4177A>C | p.Ile1393Leu | Missense | 24/312 | - | 1 |
2-179643709-CT-GC | c.4099_4100delinsGC | p.Ser1367Ala | Missense | 24/312 | - | 1 |
2-179643767-T-A | c.4042A>T | p.Ser1348Cys | Missense | 24/312 | - | 1 |
2-179644035-G-A | c.3884C>T | p.Ser1295Leu | Missense | 23/312 | - | 3 |
2-179644170-AA-GC | c.3748_3749delinsGC | p.Phe1250Ala | Missense | 23/312 | - | 1 |
2-179644170-AA-CG | c.3748_3749delinsCG | p.Phe1250Arg | Missense | 23/312 | - | 1 |
2-179644173-GA-CT | c.3745_3746delinsAG | p.Ser1249Ser | Missense | 23/312 | - | 1 |
2-179644182-T-A | c.3737A>T | p.His1246Leu | Missense | 23/312 | - | 1 |
2-179644776-TT-GC | c.3679_3680delinsGC | p.Lys1227Ala | Missense | 22/312 | - | 1 |
2-179644821-GA-CT | c.3634_3635delinsAG | p.Ser1212Ser | Missense | 22/312 | - | 1 |
2-179644827-AC-AA | c.3628delinsT | p.Val1210Leu | Missense | 22/312 | - | 1 |
2-179644845-T-C | c.3611A>G | p.Glu1204Gly | Missense | 22/312 | - | 1 |
2-179644855-T-A | c.3601A>T | p.Lys1201* | Nonsense | 22/312 | - | 10 |
2-179644855-T-C | c.3601A>G | p.Lys1201Glu | Missense | 22/312 | - | 12 |
2-179644906-G-A | c.3550C>T | p.Gln1184* | Nonsense | 22/312 | - | 1 |
2-179644924-C-T | c.3532G>A | p.Glu1178Lys | Missense | 22/312 | - | 1 |
2-179645881-C-A | c.3490G>T | p.Glu1164* | Nonsense | 21/312 | - | 1 |
2-179645962-C-T | c.3409G>A | p.Gly1137Ser | Missense | 21/312 | - | 1 |
2-179645962-C-G | c.3409G>C | p.Gly1137Arg | Missense | 21/312 | - | 2 |
2-179647041-A-G | c.3278T>C | p.Leu1093Pro | Missense | 20/312 | - | 1 |
2-179647043-TTT-GAC | c.3274_3276delinsGTC | p.Lys1092Val | Missense | 20/312 | - | 1 |
2-179647044-T-C | c.3275A>G | p.Lys1092Arg | Missense | 20/312 | - | 1 |
2-179647044-TT-GC | c.3274_3275delinsGC | p.Lys1092Ala | Missense | 20/312 | - | 1 |
2-179647068-A-G | c.3251T>C | p.Phe1084Ser | Missense | 20/312 | - | 1 |
2-179647069-A-T | c.3250T>A | p.Phe1084Ile | Missense | 20/312 | - | 1 |
2-179647117-T-C | c.3202A>G | p.Ser1068Gly | Missense | 20/312 | - | 1 |
2-179647140-CT-GC | c.3178_3179delinsGC | p.Arg1060Ala | Missense | 20/312 | - | 1 |
2-179647293-GT-TG | c.3136_3137delinsCA | p.Thr1046His | Missense | 19/312 | - | 1 |
2-179647314-T-C | c.3116A>G | p.Glu1039Gly | Missense | 19/312 | - | 1 |
2-179647323-T-G | c.3107A>C | p.Glu1036Ala | Missense | 19/312 | - | 1 |
2-179647533-C-T | c.3100G>A | p.Val1034Met | Missense | 18/312 | - | 3 |
2-179647546-A-G | c.3087T>C | p.Tyr1029Tyr | Synonymous | 18/312 | - | 1 |
2-179647571-G-A | c.3062C>T | p.Ala1021Val | Missense | 18/312 | - | 1 |
2-179647572-C-T | c.3061G>A | p.Ala1021Thr | Missense | 18/312 | - | 1 |
2-179647622-T-G | c.3011A>C | p.Glu1004Ala | Missense | 18/312 | - | 2 |
2-179647622-T-C | c.3011A>G | p.Glu1004Gly | Missense | 18/312 | - | 1 |
2-179647623-C-A | c.3010G>T | p.Glu1004* | Nonsense | 18/312 | - | 1 |
2-179647631-A-G | c.3002T>C | p.Met1001Thr | Missense | 18/312 | - | 1 |
2-179647631-A-C | c.3002T>G | p.Met1001Arg | Missense | 18/312 | - | 1 |
2-179647641-C-T | c.2992G>A | p.Ala998Thr | Missense | 18/312 | - | 1 |
2-179647655-AA-GC | c.2977_2978delinsGC | p.Phe993Ala | Missense | 18/312 | - | 1 |
2-179647706-C-A | c.2927G>T | p.Trp976Leu | Missense | 18/312 | - | 1 |
2-179647707-A-ACG | c.2925_2926insCG | p.Trp976Argfs*17 | Frameshift | 18/312 | - | 1 |
2-179647707-A-G | c.2926T>C | p.Trp976Arg | Missense | 18/312 | - | 7 |
2-179647707-A-T | c.2926T>A | p.Trp976Arg | Missense | 18/312 | - | 7 |
2-179647712-AC-AG | c.2920delinsC | p.Val974Leu | Missense | 18/312 | - | 1 |
2-179647739-T-G | c.2894A>C | p.His965Pro | Missense | 18/312 | - | 1 |
2-179647750-G-A | c.2883C>T | p.Thr961Thr | Synonymous | 18/312 | - | 1 |
2-179647751-GT-GG | c.2881delinsC | p.Thr961Pro | Missense | 18/312 | - | 1 |
2-179647752-T-C | c.2881A>G | p.Thr961Ala | Missense | 18/312 | - | 1 |
2-179647763-C-G | c.2870G>C | p.Gly957Ala | Missense | 18/312 | - | 1 |
2-179647764-C-G | c.2869G>C | p.Gly957Arg | Missense | 18/312 | - | 1 |
2-179647769-AT-GG | c.2863_2864delinsCC | p.Ile955Pro | Missense | 18/312 | - | 1 |
2-179648472-G-C | c.2816C>G | p.Pro939Arg | Missense | 17/312 | - | 1 |
2-179648490-G-C | c.2798C>G | p.Pro933Arg | Missense | 17/312 | - | 1 |
2-179648516-G-T | c.2776-4C>A | - | IntronicSNV | - | 16/311 | 1 |
2-179648807-C-T | c.2765G>A | p.Arg922His | Missense | 16/312 | - | 1 |
2-179648835-C-T | c.2737G>A | p.Glu913Lys | Missense | 16/312 | - | 1 |
2-179648850-C-T | c.2722G>A | p.Gly908Ser | Missense | 16/312 | - | 1 |
2-179648860-C-T | c.2712G>A | p.Val904Val | Synonymous | 16/312 | - | 1 |
2-179648889-C-T | c.2683G>A | p.Gly895Ser | Missense | 16/312 | - | 1 |
2-179648900-T-G | c.2672A>C | p.Lys891Thr | Missense | 16/312 | - | 1 |
2-179648976-G-C | c.2596C>G | p.Pro866Ala | Missense | 16/312 | - | 1 |
2-179649005-GT-TG | c.2566_2567delinsCA | p.Thr856His | Missense | 16/312 | - | 1 |
2-179649065-C-A | c.2507G>T | p.Gly836Val | Missense | 16/312 | - | 1 |
2-179649068-G-T | c.2504C>A | p.Ala835Asp | Missense | 16/312 | - | 1 |
2-179650370-G-A | c.2470C>T | p.Pro824Ser | Missense | 15/312 | - | 1 |
2-179650370-G-T | c.2470C>A | p.Pro824Thr | Missense | 15/312 | - | 1 |
2-179650408-G-A | c.2432C>T | p.Thr811Ile | Missense | 15/312 | - | 1 |
2-179650426-AC-TG | c.2413_2414delinsCA | p.Val805Gln | Missense | 15/312 | - | 1 |
2-179650429-TG-GC | c.2410_2411delinsGC | p.His804Ala | Missense | 15/312 | - | 1 |
2-179650573-A-G | c.2370+2T>C | - | IntronicSNV | - | 14/311 | 1 |
2-179650580-A-G | c.2365T>C | p.Ser789Pro | Missense | 14/312 | - | 1 |
2-179650582-G-A | c.2363C>T | p.Ser788Leu | Missense | 14/312 | - | 1 |
2-179650583-A-C | c.2362T>G | p.Ser788Ala | Missense | 14/312 | - | 1 |
2-179650596-CTT-TGT | c.2348_2349delinsCA | p.Lys783Thr | Missense | 14/312 | - | 1 |
2-179650644-TCT-TGG | c.2299_2300delinsCC | p.Arg767Pro | Missense | 14/312 | - | 1 |
2-179650673-G-A | c.2272C>T | p.His758Tyr | Missense | 14/312 | - | 1 |
2-179650675-GG-TG | c.2270delinsA | p.Pro757His | Missense | 14/312 | - | 1 |
2-179650701-C-T | c.2244G>A | p.Glu748Glu | Synonymous | 14/312 | - | 1 |
2-179650717-G-A | c.2228C>T | p.Ala743Val | Missense | 14/312 | - | 3 |
2-179650726-C-A | c.2219G>T | p.Arg740Leu | Missense | 14/312 | - | 7 |
2-179650730-C-G | c.2215G>C | p.Glu739Gln | Missense | 14/312 | - | 1 |
2-179650768-G-A | c.2177C>T | p.Ser726Phe | Missense | 14/312 | - | 1 |
2-179650777-A-G | c.2168T>C | p.Leu723Pro | Missense | 14/312 | - | 2 |
2-179650807-C-T | c.2138G>A | p.Arg713Gln | Missense | 14/312 | - | 2 |
2-179650839-TAC-TTT | c.2104_2105delinsAA | p.Val702Lys | Missense | 14/312 | - | 1 |
2-179650843-GC-TG | c.2101_2102delinsCA | p.Ala701His | Missense | 14/312 | - | 1 |
2-179650854-TTT-TGT | c.2090delinsC | p.Lys697Thr | Missense | 14/312 | - | 1 |
2-179651250-T-C | c.2077-382A>G | - | IntronicSNV | - | 13/311 | 1 |
2-179651746-C-T | c.2077-878G>A | - | IntronicSNV | - | 13/311 | 1 |
2-179654106-AT-TG | c.2056_2057delinsCA | p.Ile686His | Missense | 13/312 | - | 1 |
2-179654106-AT-GC | c.2056_2057delinsGC | p.Ile686Ala | Missense | 13/312 | - | 1 |
2-179654115-T-C | c.2048A>G | p.Gln683Arg | Missense | 13/312 | - | 1 |
2-179654118-C-T | c.2045G>A | p.Arg682Lys | Missense | 13/312 | - | 1 |
2-179654128-T-G | c.2035A>C | p.Met679Leu | Missense | 13/312 | - | 1 |
2-179654128-T-A | c.2035A>T | p.Met679Leu | Missense | 13/312 | - | 1 |
2-179654166-G-C | c.1997C>G | p.Ala666Gly | Missense | 13/312 | - | 1 |
2-179654167-C-A | c.1996G>T | p.Ala666Ser | Missense | 13/312 | - | 1 |
2-179654169-T-C | c.1994A>G | p.Lys665Arg | Missense | 13/312 | - | 1 |
2-179654193-G-C | c.1970C>G | p.Ser657Cys | Missense | 13/312 | - | 1 |
2-179654193-GA-AA | c.1970delinsT | p.Ser657Phe | Missense | 13/312 | - | 1 |
2-179654199-GC-TG | c.1963_1964delinsCA | p.Ala655His | Missense | 13/312 | - | 1 |
2-179654205-T-C | c.1958A>G | p.Lys653Arg | Missense | 13/312 | - | 1 |
2-179654220-CT-GC | c.1942_1943delinsGC | p.Arg648Ala | Missense | 13/312 | - | 1 |
2-179654745-AT-GC | c.1897_1898delinsGC | p.Ile633Ala | Missense | 12/312 | - | 1 |
2-179654752-C-G | c.1891G>C | p.Glu631Gln | Missense | 12/312 | - | 4 |
2-179654758-C-A | c.1885G>T | p.Gly629Cys | Missense | 12/312 | - | 1 |
2-179654759-TCT-TGT | c.1883delinsC | p.Arg628Thr | Missense | 12/312 | - | 1 |
2-179654760-CT-GA | c.1882_1883delinsTC | p.Arg628Ser | Missense | 12/312 | - | 1 |
2-179654781-TT-GC | c.1861_1862delinsGC | p.Lys621Ala | Missense | 12/312 | - | 1 |
2-179654787-TT-GC | c.1855_1856delinsGC | p.Lys619Ala | Missense | 12/312 | - | 1 |
2-179654792-TG-AC | c.1850_1851delinsGT | p.Thr617Ser | Missense | 12/312 | - | 1 |
2-179654793-G-A | c.1850C>T | p.Thr617Ile | Missense | 12/312 | - | 1 |
2-179654794-T-A | c.1849A>T | p.Thr617Ser | Missense | 12/312 | - | 1 |
2-179654800-C-CC | c.1843dup | p.Val615Glyfs*16 | Frameshift | 12/312 | - | 1 |
2-179654800-C-G | c.1843G>C | p.Val615Leu | Missense | 12/312 | - | 1 |
2-179654822-T-G | c.1821A>C | p.Lys607Asn | Missense | 12/312 | - | 1 |
2-179654822-T-A | c.1821A>T | p.Lys607Asn | Missense | 12/312 | - | 1 |
2-179654831-TTC-TGT | c.1810_1811delinsAC | p.Glu604Thr | Missense | 12/312 | - | 1 |
2-179654832-T-G | c.1811A>C | p.Glu604Ala | Missense | 12/312 | - | 1 |
2-179654838-AT-GC | c.1804_1805delinsGC | p.Met602Ala | Missense | 12/312 | - | 1 |
2-179655446-T-A | c.1789A>T | p.Ser597Cys | Missense | 11/312 | - | 1 |
2-179655448-A-C | c.1787T>G | p.Leu596Arg | Missense | 11/312 | - | 1 |
2-179655464-G-A | c.1771C>T | p.Gln591* | Nonsense | 11/312 | - | 1 |
2-179655466-T-G | c.1769A>C | p.Gln590Pro | Missense | 11/312 | - | 1 |
2-179655466-T-C | c.1769A>G | p.Gln590Arg | Missense | 11/312 | - | 1 |
2-179655466-TG-GC | c.1768_1769delinsGC | p.Gln590Ala | Missense | 11/312 | - | 1 |
2-179655476-T-C | c.1759A>G | p.Thr587Ala | Missense | 11/312 | - | 1 |
2-179655504-TAG-TTT | c.1729_1730delinsAA | p.Leu577Lys | Missense | 11/312 | - | 1 |
2-179655514-GA-CG | c.1720_1721delinsCG | p.Ser574Arg | Missense | 11/312 | - | 1 |
2-179655520-G-A | c.1715C>T | p.Ala572Val | Missense | 11/312 | - | 1 |
2-179655523-G-A | c.1712C>T | p.Thr571Ile | Missense | 11/312 | - | 1 |
2-179655532-A-G | c.1703T>C | p.Val568Ala | Missense | 11/312 | - | 1 |
2-179655544-G-GG | c.1691dup | p.Ser565Ilefs*35 | Frameshift | 11/312 | - | 1 |
2-179656805-TTG-TAT | c.1654_1655delinsAT | p.Gln552Ile | Missense | 10/312 | - | 1 |
2-179656818-TT-GT | c.1643delinsC | p.Lys548Thr | Missense | 10/312 | - | 1 |
2-179656827-TT-GC | c.1633_1634delinsGC | p.Lys545Ala | Missense | 10/312 | - | 1 |
2-179656845-A-G | c.1616T>C | p.Ile539Thr | Missense | 10/312 | - | 1 |
2-179656850-AGT-TAA | c.1609_1611delinsTTA | p.Thr537Leu | Nonsense | 10/312 | - | 1 |
2-179656860-T-A | c.1601A>T | p.Glu534Val | Missense | 10/312 | - | 1 |
2-179656869-TT-GC | c.1591_1592delinsGC | p.Lys531Ala | Missense | 10/312 | - | 1 |
2-179656872-GC-TG | c.1588_1589delinsCA | p.Ala530His | Missense | 10/312 | - | 1 |
2-179656876-C-T | c.1585G>A | p.Ala529Thr | Missense | 10/312 | - | 1 |
2-179656878-G-C | c.1583C>G | p.Ser528Cys | Missense | 10/312 | - | 1 |
2-179656879-A-C | c.1582T>G | p.Ser528Ala | Missense | 10/312 | - | 1 |
2-179658138-TG-GC | c.1528_1529delinsGC | p.His510Ala | Missense | 9/312 | - | 1 |
2-179658156-T-G | c.1511A>C | p.Glu504Ala | Missense | 9/312 | - | 1 |
2-179658162-TT-GC | c.1504_1505delinsGC | p.Lys502Ala | Missense | 9/312 | - | 1 |
2-179658166-T-C | c.1501A>G | p.Thr501Ala | Missense | 9/312 | - | 1 |
2-179658171-AT-GC | c.1495_1496delinsGC | p.Ile499Ala | Missense | 9/312 | - | 2 |
2-179658183-GT-TG | c.1483_1484delinsCA | p.Thr495His | Missense | 9/312 | - | 1 |
2-179658184-T-C | c.1483A>G | p.Thr495Ala | Missense | 9/312 | - | 1 |
2-179658186-C-T | c.1481G>A | p.Arg494Lys | Missense | 9/312 | - | 1 |
2-179658189-G-T | c.1478C>A | p.Ser493* | Nonsense | 9/312 | - | 1 |
2-179658207-TT-GC | c.1459_1460delinsGC | p.Lys487Ala | Missense | 9/312 | - | 2 |
2-179658247-T-G | c.1420A>C | p.Thr474Pro | Missense | 9/312 | - | 1 |
2-179659151-A-C | c.1373T>G | p.Val458Gly | Missense | 8/312 | - | 1 |
2-179659155-C-G | c.1369G>C | p.Ala457Pro | Missense | 8/312 | - | 2 |
2-179659157-GT-TT | c.1367delinsA | p.Thr456Asn | Missense | 8/312 | - | 2 |
2-179659159-CGT-TGT | c.1365delinsA | p.Thr455Thr | Missense | 8/312 | - | 1 |
2-179659185-C-A | c.1339G>T | p.Glu447* | Nonsense | 8/312 | - | 1 |
2-179659199-A-G | c.1325T>C | p.Val442Ala | Missense | 8/312 | - | 1 |
2-179659214-CT-CA | c.1309delinsT | p.Arg437* | Missense | 8/312 | - | 1 |
2-179659229-G-C | c.1295C>G | p.Ala432Gly | Missense | 8/312 | - | 1 |
2-179659247-AC-TG | c.1276_1277delinsCA | p.Val426His | Missense | 8/312 | - | 2 |
2-179659257-T-A | c.1267A>T | p.Ser423Cys | Missense | 8/312 | - | 2 |
2-179659262-T-G | c.1262A>C | p.Asp421Ala | Missense | 8/312 | - | 4 |
2-179659269-C-T | c.1255G>A | p.Asp419Asn | Missense | 8/312 | - | 1 |
2-179659273-TTT-TGT | c.1250delinsC | p.Lys417Thr | Missense | 8/312 | - | 1 |
2-179659646-T-C | c.1245+3A>G | - | IntronicSNV | - | 7/311 | 1 |
2-179659671-G-A | c.1223C>T | p.Ala408Val | Missense | 7/312 | - | 1 |
2-179659673-C-A | c.1221G>T | p.Glu407Asp | Missense | 7/312 | - | 1 |
2-179659673-C-G | c.1221G>C | p.Glu407Asp | Missense | 7/312 | - | 1 |
2-179659677-G-A | c.1217C>T | p.Ala406Val | Missense | 7/312 | - | 1 |
2-179659683-T-G | c.1211A>C | p.Tyr404Ser | Missense | 7/312 | - | 1 |
2-179659685-GCT-GAG | c.1207_1208delinsCT | p.Ser403Leu | Missense | 7/312 | - | 1 |
2-179659686-CT-GC | c.1207_1208delinsGC | p.Ser403Ala | Missense | 7/312 | - | 1 |
2-179659686-CT-GA | c.1207_1208delinsTC | p.Ser403Ser | Missense | 7/312 | - | 1 |
2-179659687-T-C | c.1207A>G | p.Ser403Gly | Missense | 7/312 | - | 1 |
2-179659689-G-A | c.1205C>T | p.Ala402Val | Missense | 7/312 | - | 1 |
2-179659699-A-C | c.1195T>G | p.Ser399Ala | Missense | 7/312 | - | 1 |
2-179659710-G-T | c.1184C>A | p.Ala395Asp | Missense | 7/312 | - | 2 |
2-179659724-AC-AG | c.1169delinsC | p.Gly390Ala | Missense | 7/312 | - | 1 |
2-179659728-C-T | c.1166G>A | p.Ser389Asn | Missense | 7/312 | - | 1 |
2-179659732-T-A | c.1162A>T | p.Ile388Phe | Missense | 7/312 | - | 1 |
2-179659755-TA-GC | c.1138_1139delinsGC | p.Tyr380Ala | Missense | 7/312 | - | 1 |
2-179659760-CCC-TGT | c.1132_1134delinsACA | p.Gly378Thr | Missense | 7/312 | - | 1 |
2-179659761-C-T | c.1133G>A | p.Gly378Glu | Missense | 7/312 | - | 1 |
2-179659770-CT-GC | c.1123_1124delinsGC | p.Arg375Ala | Missense | 7/312 | - | 1 |
2-179659771-T-C | c.1123A>G | p.Arg375Gly | Missense | 7/312 | - | 1 |
2-179659773-T-G | c.1121A>C | p.Glu374Ala | Missense | 7/312 | - | 1 |
2-179659774-C-G | c.1120G>C | p.Glu374Gln | Missense | 7/312 | - | 1 |
2-179659775-T-A | c.1119A>T | p.Glu373Asp | Missense | 7/312 | - | 1 |
2-179659776-T-G | c.1118A>C | p.Glu373Ala | Missense | 7/312 | - | 1 |
2-179659776-TC-CT | c.1117_1118delinsAG | p.Glu373Arg | Missense | 7/312 | - | 1 |
2-179659777-C-G | c.1117G>C | p.Glu373Gln | Missense | 7/312 | - | 1 |
2-179659790-AG-GG | c.1104delinsC | p.Thr368Thr | Missense | 7/312 | - | 1 |
2-179659794-G-C | c.1100C>G | p.Ser367Cys | Missense | 7/312 | - | 1 |
2-179659801-T-C | c.1093A>G | p.Thr365Ala | Missense | 7/312 | - | 1 |
2-179659805-CG-TC | c.1088_1089delinsGA | p.Thr363Arg | Missense | 7/312 | - | 1 |
2-179659806-G-A | c.1088C>T | p.Thr363Met | Missense | 7/312 | - | 1 |
2-179659812-T-C | c.1082A>G | p.Glu361Gly | Missense | 7/312 | - | 4 |
2-179659814-TCT-TGT | c.1079delinsC | p.Arg360Thr | Missense | 7/312 | - | 1 |
2-179659820-CTC-TGT | c.1072_1074delinsACA | p.Glu358Thr | Missense | 7/312 | - | 1 |
2-179659831-A-C | c.1063T>G | p.Ser355Ala | Missense | 7/312 | - | 1 |
2-179659849-C-A | c.1045G>T | p.Gly349Cys | Missense | 7/312 | - | 5 |
2-179659864-G-A | c.1030C>T | p.Pro344Ser | Missense | 7/312 | - | 1 |
2-179659881-C-G | c.1013G>C | p.Gly338Ala | Missense | 7/312 | - | 1 |
2-179659882-C-A | c.1012G>T | p.Gly338Cys | Missense | 7/312 | - | 1 |
2-179659882-C-G | c.1012G>C | p.Gly338Arg | Missense | 7/312 | - | 2 |
2-179659882-C-T | c.1012G>A | p.Gly338Ser | Missense | 7/312 | - | 1 |
2-179659894-T-C | c.1000A>G | p.Thr334Ala | Missense | 7/312 | - | 1 |
2-179659905-GT-TG | c.988_989delinsCA | p.Thr330His | Missense | 7/312 | - | 1 |
2-179659909-T-C | c.985A>G | p.Lys329Glu | Missense | 7/312 | - | 1 |
2-179659912-G-A | c.982C>T | p.Arg328Cys | Missense | 7/312 | - | 1 |
2-179659912-G-C | c.982C>G | p.Arg328Gly | Missense | 7/312 | - | 1 |
2-179659920-AA-AG | c.973delinsC | p.Leu325Leu | Missense | 7/312 | - | 5 |
2-179659926-G-C | c.968C>G | p.Ser323Cys | Missense | 7/312 | - | 1 |
2-179659933-C-T | c.961G>A | p.Val321Ile | Missense | 7/312 | - | 2 |
2-179659946-GGA-GAG | c.946_947delinsCT | p.Ser316Leu | Missense | 7/312 | - | 1 |
2-179659950-G-A | c.944C>T | p.Thr315Ile | Missense | 7/312 | - | 2 |
2-179659958-TCT-TGG | c.934_935delinsCC | p.Arg312Pro | Missense | 7/312 | - | 1 |
2-179659964-TGC-TGT | c.928delinsA | p.Ala310Thr | Missense | 7/312 | - | 2 |
2-179659966-C-T | c.928G>A | p.Ala310Thr | Missense | 7/312 | - | 1 |
2-179659971-G-C | c.923C>G | p.Ser308Cys | Missense | 7/312 | - | 1 |
2-179664223-G-C | c.905C>G | p.Ser302Cys | Missense | 6/312 | - | 2 |
2-179664227-G-T | c.901C>A | p.Pro301Thr | Missense | 6/312 | - | 1 |
2-179664229-G-A | c.899C>T | p.Thr300Ile | Missense | 6/312 | - | 1 |
2-179664242-C-T | c.886G>A | p.Val296Met | Missense | 6/312 | - | 1 |
2-179664244-TG-GC | c.883_884delinsGC | p.His295Ala | Missense | 6/312 | - | 1 |
2-179664244-T-C | c.884A>G | p.His295Arg | Missense | 6/312 | - | 4 |
2-179664246-TCT-CAT | c.881_882delinsTG | p.Arg294Met | Missense | 6/312 | - | 1 |
2-179664250-AC-TG | c.877_878delinsCA | p.Val293His | Missense | 6/312 | - | 1 |
2-179664259-GG-TG | c.869delinsA | p.Pro290His | Missense | 6/312 | - | 1 |
2-179664270-TAT-TTT | c.857delinsA | p.Ile286Lys | Missense | 6/312 | - | 1 |
2-179664277-G-A | c.851C>T | p.Ser284Leu | Missense | 6/312 | - | 1 |
2-179664278-A-G | c.850T>C | p.Ser284Pro | Missense | 6/312 | - | 1 |
2-179664284-A-C | c.844T>G | p.Ser282Ala | Missense | 6/312 | - | 1 |
2-179664291-CCG-TGT | c.835_837delinsACA | p.Arg279Thr | Missense | 6/312 | - | 2 |
2-179664293-G-A | c.835C>T | p.Arg279Trp | Missense | 6/312 | - | 9 |
2-179664297-CAG-TGT | c.829_831delinsACA | p.Leu277Thr | Missense | 6/312 | - | 1 |
2-179664298-AG-GC | c.829_830delinsGC | p.Leu277Ala | Missense | 6/312 | - | 2 |
2-179664301-TG-GC | c.826_827delinsGC | p.Gln276Ala | Missense | 6/312 | - | 1 |
2-179664306-TTT-TGT | c.821delinsC | p.Lys274Thr | Missense | 6/312 | - | 1 |
2-179664306-TTT-GAC | c.820_822delinsGTC | p.Lys274Val | Missense | 6/312 | - | 1 |
2-179664308-T-C | c.820A>G | p.Lys274Glu | Missense | 6/312 | - | 1 |
2-179664315-AAT-TGG | c.811_813delinsCCA | p.Ile271Pro | Missense | 6/312 | - | 1 |
2-179664319-GA-CA | c.809delinsG | p.Ser270Cys | Missense | 6/312 | - | 1 |
2-179664319-G-C | c.809C>G | p.Ser270Cys | Missense | 6/312 | - | 1 |
2-179664320-A-T | c.808T>A | p.Ser270Thr | Missense | 6/312 | - | 1 |
2-179664320-A-G | c.808T>C | p.Ser270Pro | Missense | 6/312 | - | 1 |
2-179664322-G-A | c.806C>T | p.Pro269Leu | Missense | 6/312 | - | 1 |
2-179664323-G-A | c.805C>T | p.Pro269Ser | Missense | 6/312 | - | 1 |
2-179664327-TGT-TTT | c.800delinsA | p.Thr267Lys | Missense | 6/312 | - | 1 |
2-179664328-G-A | c.800C>T | p.Thr267Ile | Missense | 6/312 | - | 1 |
2-179664335-A-G | c.793T>C | p.Ser265Pro | Missense | 6/312 | - | 1 |
2-179664336-TCT-TGT | c.791delinsC | p.Arg264Thr | Missense | 6/312 | - | 1 |
2-179664337-C-T | c.791G>A | p.Arg264Lys | Missense | 6/312 | - | 1 |
2-179664339-TG-GT | c.788_789delinsAC | p.Ser263Tyr | Missense | 6/312 | - | 1 |
2-179664341-A-C | c.787T>G | p.Ser263Ala | Missense | 6/312 | - | 1 |
2-179664342-CTT-TGT | c.785_786delinsCA | p.Lys262Thr | Missense | 6/312 | - | 2 |
2-179664346-G-A | c.782C>T | p.Pro261Leu | Missense | 6/312 | - | 1 |
2-179664350-T-G | c.778A>C | p.Lys260Gln | Missense | 6/312 | - | 1 |
2-179664352-G-C | c.776C>G | p.Pro259Arg | Missense | 6/312 | - | 1 |
2-179664358-AT-GC | c.769_770delinsGC | p.Ile257Ala | Missense | 6/312 | - | 1 |
2-179664361-CT-GC | c.766_767delinsGC | p.Arg256Ala | Missense | 6/312 | - | 1 |
2-179664361-C-T | c.767G>A | p.Arg256Lys | Missense | 6/312 | - | 1 |
2-179664370-G-A | c.758C>T | p.Thr253Ile | Missense | 6/312 | - | 1 |
2-179664373-TT-GC | c.754_755delinsGC | p.Lys252Ala | Missense | 6/312 | - | 1 |
2-179664376-TG-GC | c.751_752delinsGC | p.His251Ala | Missense | 6/312 | - | 1 |
2-179664378-TGG-TGT | c.748delinsA | p.Pro250Thr | Missense | 6/312 | - | 2 |
2-179664380-G-T | c.748C>A | p.Pro250Thr | Missense | 6/312 | - | 3 |
2-179664382-AG-AC | c.745delinsG | p.Leu249Val | Missense | 6/312 | - | 1 |
2-179664394-G-A | c.734C>T | p.Ala245Val | Missense | 6/312 | - | 1 |
2-179664395-C-T | c.733G>A | p.Ala245Thr | Missense | 6/312 | - | 1 |
2-179664396-GGC-AAG | c.730_732delinsCTT | p.Ala244Leu | Missense | 6/312 | - | 1 |
2-179664397-GC-TG | c.730_731delinsCA | p.Ala244His | Missense | 6/312 | - | 1 |
2-179664398-C-T | c.730G>A | p.Ala244Thr | Missense | 6/312 | - | 1 |
2-179664401-C-G | c.727G>C | p.Gly243Arg | Missense | 6/312 | - | 2 |
2-179664405-TAT-TGG | c.721_722delinsCC | p.Ile241Pro | Missense | 6/312 | - | 1 |
2-179664405-TAT-TGT | c.722delinsC | p.Ile241Thr | Missense | 6/312 | - | 1 |
2-179664405-TAT-TTT | c.722delinsA | p.Ile241Lys | Missense | 6/312 | - | 1 |
2-179664406-A-G | c.722T>C | p.Ile241Thr | Missense | 6/312 | - | 1 |
2-179664407-T-G | c.721A>C | p.Ile241Leu | Missense | 6/312 | - | 1 |
2-179664407-T-A | c.721A>T | p.Ile241Leu | Missense | 6/312 | - | 1 |
2-179664407-T-C | c.721A>G | p.Ile241Val | Missense | 6/312 | - | 1 |
2-179664416-C-A | c.712G>T | p.Glu238* | Nonsense | 6/312 | - | 1 |
2-179664418-AC-TG | c.709_710delinsCA | p.Val237His | Missense | 6/312 | - | 1 |
2-179664419-C-T | c.709G>A | p.Val237Ile | Missense | 6/312 | - | 1 |
2-179664422-T-C | c.706A>G | p.Thr236Ala | Missense | 6/312 | - | 1 |
2-179664425-C-T | c.703G>A | p.Ala235Thr | Missense | 6/312 | - | 1 |
2-179664426-AAT-TGG | c.700_702delinsCCA | p.Ile234Pro | Missense | 6/312 | - | 1 |
2-179664427-A-C | c.701T>G | p.Ile234Ser | Missense | 6/312 | - | 1 |
2-179664436-GC-TG | c.691_692delinsCA | p.Ala231His | Missense | 6/312 | - | 1 |
2-179664448-GC-TG | c.679_680delinsCA | p.Ala227His | Missense | 6/312 | - | 1 |
2-179664452-C-G | c.676G>C | p.Glu226Gln | Missense | 6/312 | - | 1 |
2-179664453-AAT-TGG | c.673_675delinsCCA | p.Ile225Pro | Missense | 6/312 | - | 1 |
2-179664454-AT-TG | c.673_674delinsCA | p.Ile225His | Missense | 6/312 | - | 2 |
2-179664457-T-C | c.671A>G | p.Lys224Arg | Missense | 6/312 | - | 1 |
2-179664556-T-G | c.665A>C | p.Glu222Ala | Missense | 5/312 | - | 2 |
2-179664557-C-G | c.664G>C | p.Glu222Gln | Missense | 5/312 | - | 1 |
2-179664557-C-T | c.664G>A | p.Glu222Lys | Missense | 5/312 | - | 1 |
2-179664561-TCG-TGT | c.658_659delinsAC | p.Arg220Thr | Missense | 5/312 | - | 1 |
2-179664562-C-T | c.659G>A | p.Arg220Gln | Missense | 5/312 | - | 1 |
2-179664570-TCT-TGT | c.650delinsC | p.Arg217Thr | Missense | 5/312 | - | 1 |
2-179664571-CT-GA | c.649_650delinsTC | p.Arg217Ser | Missense | 5/312 | - | 1 |
2-179664579-TG-GT | c.641_642delinsAC | p.Ser214Tyr | Missense | 5/312 | - | 1 |
2-179664580-G-A | c.641C>T | p.Ser214Leu | Missense | 5/312 | - | 1 |
2-179664582-GA-AG | c.638_639delinsCT | p.Ile213Thr | Missense | 5/312 | - | 1 |
2-179664583-A-G | c.638T>C | p.Ile213Thr | Missense | 5/312 | - | 1 |
2-179664584-T-G | c.637A>C | p.Ile213Leu | Missense | 5/312 | - | 1 |
2-179664584-T-A | c.637A>T | p.Ile213Phe | Missense | 5/312 | - | 1 |
2-179664591-CAG-C | c.629_630del | p.Thr210Serfs*12 | Frameshift | 5/312 | - | 1 |
2-179664596-A-C | c.625T>G | p.Ser209Ala | Missense | 5/312 | - | 2 |
2-179664604-G-A | c.617C>T | p.Thr206Ile | Missense | 5/312 | - | 2 |
2-179664612-CTT-TGT | c.608_609delinsCA | p.Lys203Thr | Missense | 5/312 | - | 1 |
2-179664619-GC-CG | c.601_602delinsCG | p.Ala201Arg | Missense | 5/312 | - | 2 |
2-179664628-T-G | c.593A>C | p.Glu198Ala | Missense | 5/312 | - | 1 |
2-179664628-TC-CT | c.592_593delinsAG | p.Glu198Arg | Missense | 5/312 | - | 1 |
2-179664633-CTTC-C | c.593_595del | p.Glu198del | InFrameDeletion | 5/312 | - | 2 |
2-179664634-T-G | c.587A>C | p.Glu196Ala | Missense | 5/312 | - | 1 |
2-179664637-C-T | c.584G>A | p.Gly195Asp | Missense | 5/312 | - | 1 |
2-179665117-C-T | c.583+5G>A | - | IntronicSNV | - | 4/311 | 1 |
2-179665132-TA-GT | c.572_573delinsAC | p.Leu191Tyr | Missense | 4/312 | - | 1 |
2-179665139-G-A | c.566C>T | p.Ala189Val | Missense | 4/312 | - | 1 |
2-179665140-C-T | c.565G>A | p.Ala189Thr | Missense | 4/312 | - | 1 |
2-179665143-T-C | c.562A>G | p.Thr188Ala | Missense | 4/312 | - | 2 |
2-179665146-A-G | c.559T>C | p.Ser187Pro | Missense | 4/312 | - | 1 |
2-179665148-G-A | c.557C>T | p.Thr186Ile | Missense | 4/312 | - | 1 |
2-179665151-GC-TG | c.553_554delinsCA | p.Ala185His | Missense | 4/312 | - | 1 |
2-179665152-C-A | c.553G>T | p.Ala185Ser | Missense | 4/312 | - | 1 |
2-179665152-C-G | c.553G>C | p.Ala185Pro | Missense | 4/312 | - | 1 |
2-179665157-CC-AT | c.547_548delinsAT | p.Gly183Ile | Missense | 4/312 | - | 2 |
2-179665160-AC-TG | c.544_545delinsCA | p.Val182His | Missense | 4/312 | - | 2 |
2-179665165-ATT-CAA | c.538_540delinsTTG | p.Asn180Leu | Missense | 4/312 | - | 1 |
2-179665166-TT-TG | c.538delinsC | p.Asn180His | Missense | 4/312 | - | 1 |
2-179665172-G-T | c.533C>A | p.Ala178Asp | Missense | 4/312 | - | 3 |
2-179665177-TAC-TGT | c.526_527delinsAC | p.Val176Thr | Missense | 4/312 | - | 1 |
2-179665180-T-G | c.525A>C | p.Ser175Ser | Synonymous | 4/312 | - | 1 |
2-179665180-TG-TT | c.524delinsA | p.Ser175* | Missense | 4/312 | - | 1 |
2-179665180-T-A | c.525A>T | p.Ser175Ser | Synonymous | 4/312 | - | 1 |
2-179665180-T-C | c.525A>G | p.Ser175Ser | Synonymous | 4/312 | - | 1 |
2-179665181-GA-AG | c.523_524delinsCT | p.Ser175Leu | Missense | 4/312 | - | 1 |
2-179665182-A-C | c.523T>G | p.Ser175Ala | Missense | 4/312 | - | 1 |
2-179665187-GT-TG | c.517_518delinsCA | p.Thr173His | Missense | 4/312 | - | 1 |
2-179665193-G-A | c.512C>T | p.Ser171Leu | Missense | 4/312 | - | 1 |
2-179665194-A-C | c.511T>G | p.Ser171Ala | Missense | 4/312 | - | 1 |
2-179665197-C-G | c.508G>C | p.Asp170His | Missense | 4/312 | - | 1 |
2-179665203-G-C | c.502C>G | p.Pro168Ala | Missense | 4/312 | - | 1 |
2-179665204-GTA-CAA | c.500_501delinsTG | p.Tyr167Leu | Missense | 4/312 | - | 1 |
2-179665205-TA-GC | c.499_500delinsGC | p.Tyr167Ala | Missense | 4/312 | - | 1 |
2-179665205-T-A | c.500A>T | p.Tyr167Phe | Missense | 4/312 | - | 1 |
2-179665205-TA-CG | c.499_500delinsCG | p.Tyr167Arg | Missense | 4/312 | - | 1 |
2-179665213-T-G | c.492A>C | p.Ala164Ala | Synonymous | 4/312 | - | 1 |
2-179665213-T-A | c.492A>T | p.Ala164Ala | Synonymous | 4/312 | - | 1 |
2-179665213-TGC-TGG | c.490delinsC | p.Ala164Pro | Missense | 4/312 | - | 1 |
2-179665213-T-C | c.492A>G | p.Ala164Ala | Synonymous | 4/312 | - | 1 |
2-179665216-AAT-TGG | c.487_489delinsCCA | p.Ile163Pro | Missense | 4/312 | - | 1 |
2-179665217-AT-GA | c.487_488delinsTC | p.Ile163Ser | Missense | 4/312 | - | 1 |
2-179665217-AT-GC | c.487_488delinsGC | p.Ile163Ala | Missense | 4/312 | - | 2 |
2-179665220-AG-GC | c.484_485delinsGC | p.Leu162Ala | Missense | 4/312 | - | 1 |
2-179665220-A-T | c.485T>A | p.Leu162Gln | Missense | 4/312 | - | 1 |
2-179665222-TA-GT | c.482_483delinsAC | p.Leu161Tyr | Missense | 4/312 | - | 1 |
2-179665223-AA-AG | c.481delinsC | p.Leu161Leu | Missense | 4/312 | - | 2 |
2-179665226-CT-GC | c.478_479delinsGC | p.Ser160Ala | Missense | 4/312 | - | 1 |
2-179665227-T-A | c.478A>T | p.Ser160Cys | Missense | 4/312 | - | 1 |
2-179665231-GAG-ATG | c.473_474delinsAT | p.Leu158His | Missense | 4/312 | - | 1 |
2-179665232-AG-TG | c.473delinsA | p.Leu158His | Missense | 4/312 | - | 2 |
2-179665235-TC-TG | c.469delinsC | p.Asp157His | Missense | 4/312 | - | 3 |
2-179665235-T-G | c.470A>C | p.Asp157Ala | Missense | 4/312 | - | 2 |
2-179665238-CC-AA | c.466_467delinsTT | p.Gly156Phe | Missense | 4/312 | - | 1 |
2-179665241-T-C | c.464A>G | p.Glu155Gly | Missense | 4/312 | - | 1 |
2-179665244-TG-GC | c.460_461delinsGC | p.Gln154Ala | Missense | 4/312 | - | 1 |
2-179665244-T-G | c.461A>C | p.Gln154Pro | Missense | 4/312 | - | 1 |
2-179665247-G-A | c.458C>T | p.Ser153Leu | Missense | 4/312 | - | 1 |
2-179665248-A-C | c.457T>G | p.Ser153Ala | Missense | 4/312 | - | 1 |
2-179665249-A-C | c.456T>G | p.Ile152Met | Missense | 4/312 | - | 1 |
2-179665250-AT-TG | c.454_455delinsCA | p.Ile152His | Missense | 4/312 | - | 1 |
2-179665251-T-G | c.454A>C | p.Ile152Leu | Missense | 4/312 | - | 4 |
2-179665253-T-C | c.452A>G | p.Gln151Arg | Missense | 4/312 | - | 2 |
2-179665259-T-G | c.446A>C | p.Asp149Ala | Missense | 4/312 | - | 2 |
2-179665259-TC-TG | c.445delinsC | p.Asp149His | Missense | 4/312 | - | 2 |
2-179665261-AAG-TGG | c.443_444delinsCA | p.Leu148Pro | Missense | 4/312 | - | 1 |
2-179665262-AG-TG | c.443delinsA | p.Leu148His | Missense | 4/312 | - | 1 |
2-179665268-C-G | c.437G>C | p.Ser146Thr | Missense | 4/312 | - | 1 |
2-179665269-T-A | c.436A>T | p.Ser146Cys | Missense | 4/312 | - | 1 |
2-179665269-T-C | c.436A>G | p.Ser146Gly | Missense | 4/312 | - | 1 |
2-179665274-AT-TG | c.430_431delinsCA | p.Ile144His | Missense | 4/312 | - | 1 |
2-179665278-C-T | c.427G>A | p.Glu143Lys | Missense | 4/312 | - | 1 |
2-179665283-C-G | c.422G>C | p.Gly141Ala | Missense | 4/312 | - | 1 |
2-179665288-CCG-TGT | c.415_417delinsACA | p.Arg139Thr | Missense | 4/312 | - | 1 |
2-179665289-C-T | c.416G>A | p.Arg139Gln | Missense | 4/312 | - | 1 |
2-179665293-A-G | c.412T>C | p.Tyr138His | Missense | 4/312 | - | 1 |
2-179665295-A-T | c.410T>A | p.Phe137Tyr | Missense | 4/312 | - | 1 |
2-179665295-A-G | c.410T>C | p.Phe137Ser | Missense | 4/312 | - | 2 |
2-179665295-AA-GC | c.409_410delinsGC | p.Phe137Ala | Missense | 4/312 | - | 2 |
2-179665296-A-G | c.409T>C | p.Phe137Leu | Missense | 4/312 | - | 1 |
2-179665294-G-T | c.411C>A | p.Phe137Leu | Missense | 4/312 | - | 1 |
2-179665294-G-C | c.411C>G | p.Phe137Leu | Missense | 4/312 | - | 1 |
2-179665297-CTT-GAC | c.406_408delinsGTC | p.Lys136Val | Missense | 4/312 | - | 1 |
2-179665298-TT-TG | c.406delinsC | p.Lys136Gln | Missense | 4/312 | - | 1 |
2-179665298-T-G | c.407A>C | p.Lys136Thr | Missense | 4/312 | - | 2 |
2-179665300-CAC-TGT | c.403_405delinsACA | p.Val135Thr | Missense | 4/312 | - | 2 |
2-179665301-A-G | c.404T>C | p.Val135Ala | Missense | 4/312 | - | 1 |
2-179665304-A-G | c.401T>C | p.Val134Ala | Missense | 4/312 | - | 1 |
2-179665308-G-C | c.397C>G | p.Pro133Ala | Missense | 4/312 | - | 1 |
2-179665311-T-C | c.394A>G | p.Thr132Ala | Missense | 4/312 | - | 2 |
2-179665322-GT-CT | c.383delinsG | p.Thr128Ser | Missense | 4/312 | - | 1 |
2-179665332-C-T | c.373G>A | p.Val125Met | Missense | 4/312 | - | 1 |
2-179665336-GA-AA | c.369delinsT | p.Leu123Leu | Missense | 4/312 | - | 1 |
2-179665347-G-A | c.358C>T | p.Gln120* | Nonsense | 4/312 | - | 1 |
2-179665349-CT-CC | c.355delinsG | p.Ser119Gly | Missense | 4/312 | - | 1 |
2-179665352-C-G | c.353G>C | p.Gly118Ala | Missense | 4/312 | - | 1 |
2-179665361-A-G | c.344T>C | p.Val115Ala | Missense | 4/312 | - | 1 |
2-179665364-GT-TG | c.340_341delinsCA | p.Thr114His | Missense | 4/312 | - | 1 |
2-179665365-T-C | c.340A>G | p.Thr114Ala | Missense | 4/312 | - | 1 |
2-179665367-A-G | c.338T>C | p.Met113Thr | Missense | 4/312 | - | 1 |
2-179665368-T-C | c.337A>G | p.Met113Val | Missense | 4/312 | - | 1 |
2-179665376-AG-GC | c.328_329delinsGC | p.Leu110Ala | Missense | 4/312 | - | 1 |
2-179665377-G-C | c.328C>G | p.Leu110Val | Missense | 4/312 | - | 1 |
2-179665383-G-A | c.322C>T | p.Gln108* | Nonsense | 4/312 | - | 1 |
2-179665391-TT-TG | c.313delinsC | p.Asn105His | Missense | 4/312 | - | 1 |
2-179665403-G-A | c.302C>T | p.Thr101Ile | Missense | 4/312 | - | 1 |
2-179665404-T-C | c.301A>G | p.Thr101Ala | Missense | 4/312 | - | 2 |
2-179666866-TTT-TGT | c.293delinsC | p.Lys98Thr | Missense | 3/312 | - | 1 |
2-179666870-A-G | c.290T>C | p.Val97Ala | Missense | 3/312 | - | 1 |
2-179666871-C-T | c.289G>A | p.Val97Met | Missense | 3/312 | - | 1 |
2-179666874-G-C | c.286C>G | p.Leu96Val | Missense | 3/312 | - | 1 |
2-179666876-A-G | c.284T>C | p.Leu95Pro | Missense | 3/312 | - | 1 |
2-179666882-GC-TT | c.277_278delinsAA | p.Ala93Asn | Missense | 3/312 | - | 1 |
2-179666883-C-G | c.277G>C | p.Ala93Pro | Missense | 3/312 | - | 1 |
2-179666885-GT-TG | c.274_275delinsCA | p.Thr92His | Missense | 3/312 | - | 2 |
2-179666889-T-C | c.271A>G | p.Ser91Gly | Missense | 3/312 | - | 1 |
2-179666893-CGC-TGT | c.265_267delinsACA | p.Ala89Thr | Missense | 3/312 | - | 2 |
2-179666897-TG-GC | c.262_263delinsGC | p.Gln88Ala | Missense | 3/312 | - | 1 |
2-179666898-G-C | c.262C>G | p.Gln88Glu | Missense | 3/312 | - | 2 |
2-179666906-C-T | c.254G>A | p.Gly85Glu | Missense | 3/312 | - | 2 |
2-179666912-GT-CT | c.248delinsG | p.Thr83Ser | Missense | 3/312 | - | 1 |
2-179666914-GGC-TGG | c.244_246delinsCCA | p.Ala82Pro | Missense | 3/312 | - | 2 |
2-179666915-GC-TG | c.244_245delinsCA | p.Ala82His | Missense | 3/312 | - | 1 |
2-179666915-GC-CT | c.244_245delinsAG | p.Ala82Ser | Missense | 3/312 | - | 1 |
2-179666915-G-A | c.245C>T | p.Ala82Val | Missense | 3/312 | - | 1 |
2-179666916-C-A | c.244G>T | p.Ala82Ser | Missense | 3/312 | - | 1 |
2-179666916-C-T | c.244G>A | p.Ala82Thr | Missense | 3/312 | - | 1 |
2-179666917-TTT-TGT | c.242delinsC | p.Lys81Thr | Missense | 3/312 | - | 1 |
2-179666918-T-C | c.242A>G | p.Lys81Arg | Missense | 3/312 | - | 1 |
2-179666923-GGA-GAG | c.235_236delinsCT | p.Ser79Leu | Missense | 3/312 | - | 1 |
2-179666924-G-C | c.236C>G | p.Ser79Cys | Missense | 3/312 | - | 1 |
2-179666924-G-T | c.236C>A | p.Ser79Tyr | Missense | 3/312 | - | 1 |
2-179666924-GA-CT | c.235_236delinsAG | p.Ser79Ser | Missense | 3/312 | - | 1 |
2-179666924-GA-CG | c.235_236delinsCG | p.Ser79Arg | Missense | 3/312 | - | 1 |
2-179666925-A-G | c.235T>C | p.Ser79Pro | Missense | 3/312 | - | 1 |
2-179666925-A-T | c.235T>A | p.Ser79Thr | Missense | 3/312 | - | 1 |
2-179666925-A-C | c.235T>G | p.Ser79Ala | Missense | 3/312 | - | 1 |
2-179666927-TA-CT | c.232_233delinsAG | p.Tyr78Ser | Missense | 3/312 | - | 1 |
2-179666928-A-C | c.232T>G | p.Tyr78Asp | Missense | 3/312 | - | 1 |
2-179666929-TCG-TGG | c.230delinsC | p.Arg77Pro | Missense | 3/312 | - | 1 |
2-179666929-TCG-TGT | c.229_230delinsAC | p.Arg77Thr | Missense | 3/312 | - | 1 |
2-179666929-TC-AT | c.230_231delinsAT | p.Arg77His | Missense | 3/312 | - | 1 |
2-179666932-TCC-TGG | c.226_227delinsCC | p.Gly76Pro | Missense | 3/312 | - | 1 |
2-179666933-C-A | c.227G>T | p.Gly76Val | Missense | 3/312 | - | 2 |
2-179666938-G-T | c.222C>A | p.Asn74Lys | Missense | 3/312 | - | 1 |
2-179666938-G-C | c.222C>G | p.Asn74Lys | Missense | 3/312 | - | 1 |
2-179666941-GGC-ATG | c.217_219delinsCAT | p.Ala73His | Missense | 3/312 | - | 1 |
2-179666942-GC-TT | c.217_218delinsAA | p.Ala73Asn | Missense | 3/312 | - | 1 |
2-179666942-GC-TG | c.217_218delinsCA | p.Ala73His | Missense | 3/312 | - | 1 |
2-179666944-TTT-TGT | c.215delinsC | p.Lys72Thr | Missense | 3/312 | - | 1 |
2-179666954-G-T | c.206C>A | p.Ala69Asp | Missense | 3/312 | - | 1 |
2-179666954-GC-TT | c.205_206delinsAA | p.Ala69Asn | Missense | 3/312 | - | 1 |
2-179666955-C-A | c.205G>T | p.Ala69Ser | Missense | 3/312 | - | 1 |
2-179666955-C-T | c.205G>A | p.Ala69Thr | Missense | 3/312 | - | 1 |
2-179666960-A-C | c.200T>G | p.Ile67Ser | Missense | 3/312 | - | 1 |
2-179666965-CAG-TGT | c.193_195delinsACA | p.Leu65Thr | Missense | 3/312 | - | 1 |
2-179666965-CAG-ATC | c.193_195delinsGAT | p.Leu65Asp | Missense | 3/312 | - | 1 |
2-179666967-G-C | c.193C>G | p.Leu65Val | Missense | 3/312 | - | 1 |
2-179666973-C-T | c.187G>A | p.Ala63Thr | Missense | 3/312 | - | 1 |
2-179666974-GCG-ATG | c.185_186delinsAT | p.Arg62His | Missense | 3/312 | - | 1 |
2-179666975-C-T | c.185G>A | p.Arg62His | Missense | 3/312 | - | 1 |
2-179666979-C-A | c.181G>T | p.Gly61Cys | Missense | 3/312 | - | 2 |
2-179666981-T-G | c.179A>C | p.Asp60Ala | Missense | 3/312 | - | 1 |
2-179666984-CT-GA | c.175_176delinsTC | p.Ser59Ser | Missense | 3/312 | - | 1 |
2-179666985-T-A | c.175A>T | p.Ser59Cys | Missense | 3/312 | - | 1 |
2-179666988-AAGGAGATCTGCACGCCGGGCAGAGTGGAAGTGGAAATCACCTGGCCAT-A | c.125_172del | p.Asp42_Phe58delinsVal | MultiAAMissense | 3/312 | - | 1 |
2-179666999-AC-CC | c.161delinsG | p.Val54Gly | Missense | 3/312 | - | 1 |
2-179667000-C-T | c.160G>A | p.Val54Met | Missense | 3/312 | - | 4 |
2-179667000-C-A | c.160G>T | p.Val54Leu | Missense | 3/312 | - | 2 |
2-179667000-C-G | c.160G>C | p.Val54Leu | Missense | 3/312 | - | 2 |
2-179667006-G-C | c.154C>G | p.Pro52Ala | Missense | 3/312 | - | 1 |
2-179667007-CAG-AAC | c.151_153delinsGTT | p.Leu51Val | Missense | 3/312 | - | 1 |
2-179667007-CA-AT | c.152_153delinsAT | p.Leu51His | Missense | 3/312 | - | 1 |
2-179667008-AG-TG | c.152delinsA | p.Leu51Gln | Missense | 3/312 | - | 1 |
2-179667008-A-C | c.152T>G | p.Leu51Arg | Missense | 3/312 | - | 1 |
2-179667008-A-T | c.152T>A | p.Leu51Gln | Missense | 3/312 | - | 1 |
2-179667011-GT-TG | c.148_149delinsCA | p.Thr50His | Missense | 3/312 | - | 3 |
2-179667014-GA-GG | c.145delinsC | p.Ser49Pro | Missense | 3/312 | - | 1 |
2-179667014-G-C | c.146C>G | p.Ser49Cys | Missense | 3/312 | - | 1 |
2-179667015-A-T | c.145T>A | p.Ser49Thr | Missense | 3/312 | - | 1 |
2-179667017-GT-TT | c.143delinsA | p.Thr48Asn | Missense | 3/312 | - | 1 |
2-179667017-GT-TG | c.142_143delinsCA | p.Thr48His | Missense | 3/312 | - | 1 |
2-179667019-GGA-ATG | c.139_141delinsCAT | p.Ser47His | Missense | 3/312 | - | 1 |
2-179667019-GGA-GAG | c.139_140delinsCT | p.Ser47Leu | Missense | 3/312 | - | 1 |
2-179667020-G-C | c.140C>G | p.Ser47Cys | Missense | 3/312 | - | 1 |
2-179667021-A-C | c.139T>G | p.Ser47Ala | Missense | 3/312 | - | 1 |
2-179667022-A-C | c.138T>G | p.Ile46Met | Missense | 3/312 | - | 1 |
2-179667023-AT-TG | c.136_137delinsCA | p.Ile46His | Missense | 3/312 | - | 2 |
2-179667025-CAC-TTT | c.133_135delinsAAA | p.Val45Lys | Missense | 3/312 | - | 3 |
2-179667025-CAC-TGT | c.133_135delinsACA | p.Val45Thr | Missense | 3/312 | - | 2 |
2-179667026-A-G | c.134T>C | p.Val45Ala | Missense | 3/312 | - | 2 |
2-179667028-CTG-TGT | c.130_132delinsACA | p.Gln44Thr | Missense | 3/312 | - | 2 |
2-179667029-TG-GC | c.130_131delinsGC | p.Gln44Ala | Missense | 3/312 | - | 2 |
2-179667029-T-A | c.131A>T | p.Gln44Leu | Missense | 3/312 | - | 1 |
2-179667035-T-G | c.125A>C | p.Asp42Ala | Missense | 3/312 | - | 1 |
2-179667037-C-A | c.123G>T | p.Arg41Ser | Missense | 3/312 | - | 1 |
2-179667037-C-G | c.123G>C | p.Arg41Ser | Missense | 3/312 | - | 1 |
2-179667037-CCT-TTT | c.122_123delinsAA | p.Arg41Lys | Missense | 3/312 | - | 1 |
2-179667037-CC-AC | c.123delinsT | p.Arg41Ser | Missense | 3/312 | - | 1 |
2-179667038-CT-GC | c.121_122delinsGC | p.Arg41Ala | Missense | 3/312 | - | 1 |
2-179667038-CT-GT | c.122delinsC | p.Arg41Thr | Missense | 3/312 | - | 1 |
2-179667038-CT-TA | c.121_122delinsTA | p.Arg41* | Nonsense | 3/312 | - | 1 |
2-179667041-AA-GC | c.118_119delinsGC | p.Phe40Ala | Missense | 3/312 | - | 2 |
2-179667041-AA-AC | c.118delinsG | p.Phe40Val | Missense | 3/312 | - | 1 |
2-179667041-A-G | c.119T>C | p.Phe40Ser | Missense | 3/312 | - | 1 |
2-179667048-T-C | c.112A>G | p.Ser38Gly | Missense | 3/312 | - | 1 |
2-179667049-CA-AC | c.110_111delinsGT | p.Val37Gly | Missense | 3/312 | - | 1 |
2-179667056-G-T | c.104C>A | p.Pro35His | Missense | 3/312 | - | 1 |
2-179667057-G-A | c.103C>T | p.Pro35Ser | Missense | 3/312 | - | 7 |
2-179667059-AC-TG | c.100_101delinsCA | p.Val34His | Missense | 3/312 | - | 1 |
2-179667062-G-A | c.98C>T | p.Pro33Leu | Missense | 3/312 | - | 1 |
2-179667065-A-T | c.95T>A | p.Phe32Tyr | Missense | 3/312 | - | 1 |
2-179667065-AA-GC | c.94_95delinsGC | p.Phe32Ala | Missense | 3/312 | - | 1 |
2-179669290-GC-TG | c.79_80delinsCA | p.Ala27His | Missense | 2/312 | - | 1 |
2-179669290-GC-CT | c.79_80delinsAG | p.Ala27Ser | Missense | 2/312 | - | 1 |
2-179669293-T-G | c.77A>C | p.Glu26Ala | Missense | 2/312 | - | 2 |
2-179669294-C-G | c.76G>C | p.Glu26Gln | Missense | 2/312 | - | 1 |
2-179669296-AA-GC | c.73_74delinsGC | p.Phe25Ala | Missense | 2/312 | - | 2 |
2-179669296-A-T | c.74T>A | p.Phe25Tyr | Missense | 2/312 | - | 1 |
2-179669299-G-T | c.71C>A | p.Thr24Asn | Missense | 2/312 | - | 1 |
2-179669299-GT-GA | c.70delinsT | p.Thr24Ser | Missense | 2/312 | - | 1 |
2-179669300-T-C | c.70A>G | p.Thr24Ala | Missense | 2/312 | - | 1 |
2-179669302-G-T | c.68C>A | p.Ala23Glu | Missense | 2/312 | - | 1 |
2-179669303-C-G | c.67G>C | p.Ala23Pro | Missense | 2/312 | - | 1 |
2-179669303-C-T | c.67G>A | p.Ala23Thr | Missense | 2/312 | - | 1 |
2-179669306-T-C | c.64A>G | p.Thr22Ala | Missense | 2/312 | - | 1 |
2-179669308-CT-GC | c.61_62delinsGC | p.Ser21Ala | Missense | 2/312 | - | 1 |
2-179669309-T-A | c.61A>T | p.Ser21Cys | Missense | 2/312 | - | 1 |
2-179669312-C-A | c.58G>T | p.Gly20Cys | Missense | 2/312 | - | 1 |
2-179669316-CAG-TGT | c.52_54delinsACA | p.Leu18Thr | Missense | 2/312 | - | 1 |
2-179669319-TAC-TGT | c.49_50delinsAC | p.Val17Thr | Missense | 2/312 | - | 5 |
2-179669319-TAC-CAT | c.49_51delinsATG | p.Val17Met | Missense | 2/312 | - | 1 |
2-179669320-AC-CC | c.50delinsG | p.Val17Gly | Missense | 2/312 | - | 1 |
2-179669322-CAC-TGT | c.46_48delinsACA | p.Val16Thr | Missense | 2/312 | - | 1 |
2-179669323-AC-TC | c.47delinsA | p.Val16Glu | Missense | 2/312 | - | 1 |
2-179669326-A-G | c.44T>C | p.Val15Ala | Missense | 2/312 | - | 1 |
2-179669329-CT-GC | c.40_41delinsGC | p.Ser14Ala | Missense | 2/312 | - | 6 |
2-179669329-CT-GA | c.40_41delinsTC | p.Ser14Ser | Missense | 2/312 | - | 1 |
2-179669330-T-A | c.40A>T | p.Ser14Cys | Missense | 2/312 | - | 2 |
2-179669333-G-T | c.37C>A | p.Gln13Lys | Missense | 2/312 | - | 1 |
2-179669335-AA-GC | c.34_35delinsGC | p.Leu12Ala | Missense | 2/312 | - | 2 |
2-179669339-G-C | c.31C>G | p.Pro11Ala | Missense | 2/312 | - | 1 |
2-179669342-G-A | c.28C>T | p.Gln10* | Nonsense | 2/312 | - | 2 |
2-179669365-G-A | c.5C>T | p.Thr2Ile | Missense | 2/312 | - | 1 |
2-179670414-A-G | c.-13-1032T>C | - | IntronicSNV | - | 1/311 | 1 |
2-179672033-C-T | c.-108G>A | - | 5_prime_UTR_variant | 1/312 | - | 1 |